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Congenital thrombocytopenia

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https://www.readbyqxmd.com/read/27882637/transplantation-associated-thrombotic-microangiopathy-isolated-to-a-congenital-anomaly-of-the-lung
#1
Rebecca T Kummen, Geoffrey D E Cuvelier, Camelia Stefanovici, Anamarija M Perry, Rick Higgins, Rochelle Yanofsky, Suyin A Lum Min, Donna A Wall
TA-TMA is a post-hematopoietic stem cell transplant complication with clinical features of hemolytic anemia and thrombocytopenia. A 26-month-old child who had had an allogeneic transplant for treatment of DBA developed severe TA-TMA with heavy red blood cell and platelet transfusion dependence. Incidentally, he was found to have a lung sequestration. TA-TMA resolved and transfusion dependence resolved after resection of the sequestration. The finding suggests the malformation vasculature was selectively vulnerable to the trigger of TA-TMA-raising perhaps a clue to basic pathophysiology of TA-TMA and/or vascular malformations...
November 24, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27868334/consensus-on-the-standardization-of-terminology-in-thrombotic-thrombocytopenic-purpura-and-related-thrombotic-microangiopathies
#2
M Scully, S Cataland, P Coppo, J de la Rubia, K D Friedman, J Kremer Hovinga, B Lämmle, M Matsumoto, K Pavenski, E Sadler, R Sarode, H Wu
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS) are two important acute conditions to diagnose. Thrombotic Microangiopathy is a broad pathophysiological process that leads to microangiopathic hemolytic anemia, thrombocytopenia and involves capillary and small vessel platelet aggregates. The most common cause being disseminated intravascular coagulation (DIC), which may be differentiated by abnormal coagulation. Clinically, a number of conditions present with microangiopathic hemolytic anemia and thrombocytopenia (MAHAT), including cancer, infection, transplantation, drugs, autoimmune disease and pre-eclampsia and HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome in pregnancy...
November 21, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27811851/establishment-of-a-congenital-amegakaryocytic-thrombocytopenia-model-and-a-thrombocyte-specific-reporter-line-in-zebrafish
#3
Q Lin, Y Zhang, R Zhou, Y Zheng, L Zhao, M Huang, X Zhang, A Y H Leung, W Zhang, Y Zhang
Mutations in the human myeloproliferative leukemia protein gene (MPL) are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). The prognosis of this heritable disorder is poor and bone marrow transplantation is the only effective treatment. Here, by using transcription activator-like effect or nucleases (TALEN) technology, we created a zebrafish mpl mutant to model human CAMT. Disruption of zebrafish mpl leaded to a severe reduction in thrombocytes and a high bleeding tendency, as well as deficiencies in adult HSPCs...
November 4, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27808407/extension-of-the-clinical-and-molecular-phenotype-of-diaph1-associated-autosomal-dominant-hearing-loss-dfna1
#4
Christine Neuhaus, Ruth Lang-Roth, Ulrike Zimmermann, Raoul Heller, Tobias Eisenberger, Matthias Weikert, Susanne Markus, Marlies Knipper, Hanno J Bolz
In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p.Ala1210Serfs*31 and p.Arg1213*). In contrast to the extensively studied original DFNA1 family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying DFNA1 as a syndrome...
November 3, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27795525/how-to-choose-and-understand-clinical-laboratory-tests-in-daily-clinical-management-of-hematologic-diseases
#5
Yoshinobu Seki
General statements have been published regarding the clinical laboratory tests for thrombosis and hemostasis to be used by hematologists who do not specialize in this field. Screening tests for bleeding are bleeding time, capillary fragility test, platelet count, prothrombin time, activated partial thromboplastin time (APTT), fibrinogen, fibrin/fibrinogen degradation products (FDP), and the cross mixing test conducted by measuring APTT. Screening tests for thrombosis and related factors include measurements of FDP, D-dimer, and thrombin-antithrombin complex...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27793553/-thrombosis-during-thrombopoietin-receptor-agonist-treatment-for-immune-thrombocytopenia-a-french-multicentric-observational-study
#6
E Weber, G Moulis, M Mahévas, C Guy, B Lioger, I Durieu, M Hunault, M Ramanantsoa, B Royer, A Default, M-C Pérault-Pochat, L Moachon, N Bernard, G Bardy, A-P Jonville-Bera, H Geniaux, B Godeau, P Cathébras
INTRODUCTION: Thrombopoietin-receptor agonists (TPO-RA) are marketed for immune thrombocytopenia (ITP). They have been associated to thrombosis occurrence in randomized controlled trials. However, the characteristics of these thromboses in the real-life practice as well as their management are poorly known. The objectives of this study were to determine the risk factors, circumstances and management of thrombosis occurring during exposure to TPO-RA in ITP. METHODS: We carried out a multicentre retrospective study in France...
October 25, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27774886/the-clinico-hematological-features-and-management-outcome-in-neonatal-malaria-a-nine-years-analysis-from-north-india
#7
Kriti Mohan
BACKGROUND: Malaria is an important cause of death and illness in children worldwide. Most cases of neonatal malaria are misdiagnosed because of the lack of specific symptoms and a general lack of awareness. Nothing much is known in literature about the haematological changes during malaria infection and outcome of disease in neonates. Neonatal malaria is an underdiagnosed entity. So this hospital based observational study aims to assess diagnostic features of neonatal malaria. METHODS: From August 2004 to August 2013, information of all slide positive for malaria cases aged 0 to 28 days admitted to our pediatric hospital was collected and analysed...
October 20, 2016: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/27766065/thrombopoietin-and-its-receptor-in-normal-and-neoplastic-hematopoiesis
#8
Kenneth Kaushansky
Thrombopoietin was posited to exist in 1958 and cloned in 1994, and in the ensuing two decades we have learned a great deal about the physiology and pathology of the primary regulator of thrombopoiesis. This paper will review the role of the hormone and its receptor, the product of the c-Mpl proto-oncogene, in health and disease, including many unexpected effects in both normal and neoplastic hematopoiesis. Amongst these unexpected properties are a non-redundant effect on hematopoietic stem cells, a critical role in all three of the acquired, chronic myeloproliferative neoplasms, as well as both gain-of-function and loss-of-function mutations in congenital and acquired states of thrombocytopenia and thrombocythemia...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27753765/risk-adjustment-for-congenital-heart-surgery-score-as-a-risk-factor-for-candidemia-in-children-undergoing-congenital-heart-defect-surgery
#9
Fabio de Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
November 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27681010/preterm-thrombocytopenia-and-delay-of-ductus-arteriosus-closure
#10
Vinay Vamadev Kulkarni, Sourabh Dutta, Venkataseshan Sundaram, Shiv Sajan Saini
OBJECTIVES: To evaluate whether preterm thrombocytopenia within 24 hours of birth is associated with delayed closure of patent ductus arteriosus (PDA) and higher proportion of hemodynamically significant PDA (Hs-PDA). METHODS: Neonates (gestation 26(0/7)-33(6/7) weeks, age <24 hours) with known platelet count and PDA on echocardiogram were prospectively enrolled. Asphyxia, congenital infections, structural heart disease, major malformations and clinical sepsis were exclusions...
September 28, 2016: Pediatrics
https://www.readbyqxmd.com/read/27668906/postnatal-cytomegalovirus-infection-in-an-infant-with-congenital-thrombocytopenia-how-it-can-support-or-mislead-the-diagnosis-of-wiskott-aldrich-syndrome
#11
Dimitri Poddighe, Elena Virginia, Marco Nedbal, Annarosa Soresina, Paola Bruni
A male newborn developed a post-natal cytomegalovirus (CMV) infection, arising in the clinical setting of congenital thrombocytopenia, which was diagnosed as being alloimmune. The evidence of active CMV infection in an infant showing slow-resolution lower airways infection, persistent neonatal and low platelet volume thrombocytopenia, and diffuse eczema (associated to very high levels of serum immunoglobulin E) led to the diagnosis of Wiskott-Aldrich syndrome (WAS) before the third month of life, despite the presence of several confounding clinical factors...
September 1, 2016: Le Infezioni in Medicina
https://www.readbyqxmd.com/read/27648610/thrombotic-thrombocytopenic-purpura-and-atypical-hemolytic-uremic-syndrome-microangiopathy-in-pregnancy
#12
Marie Scully
Thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS) are thrombotic microangiopathies (TMAs) that can present in pregnancy. The presentation can be with typical microangiopathic features and thrombocytopenia, but there is also a significant risk of in-utero fetal loss. TTP presents most commonly in the third trimester and aHUS in the postpartum period. On presumptive diagnosis, plasma exchange should be started and ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) activity measured...
September 20, 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27627852/severe-neonatal-cmv-infection-complicated-with-thrombotic-microangiopathy-successfully-treated-with-ganciclovir
#13
Noriko Mitsuiki, Keita Tamanuki, Kenshi Sei, Jun Ito, Aiko Kishi, Kenji Kobayashi, Yoshiho Hatai, Masayuki Nagasawa
We report a neonate of severe cytomegalovirus (CMV) infection who presented vomiting, severe thrombocytopenia and thrombotic microangiopathy (TMA). He showed occasional vomiting at 3 weeks of age and visited us with systemic petechiae at 29 days old. Platelet was markedly decreased to 18,000/μL and fragmented red blood cells were increased in the peripheral blood. Intravenous ganciclovir (GCV) administration was started at 35 days old after detection of CMV in the peripheral blood. His normal values of T-cell receptor excision circles (TREC) and signal joint kappa-deleting recombination excision circles (sjKREC) excluded the possibility of severe immunodeficiency...
September 11, 2016: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/27619328/left-main-coronary-artery-atresia-in-an-infant-with-inclusion-cell-disease
#14
Rachel L Bounds, Joseph Kuebler, Jill M Cholette, George M Alfieris, Sitaram M Emani, Carol A Wittlieb-Weber
A 2-month-old male with dysmorphic facies, neonatal thrombocytopenia, left congenital cataract, and long bone abnormalities became hypotensive with ST depression on induction of anesthesia for congenital cataract repair. Echocardiogram demonstrated decreased left ventricular function (ejection fraction 46%), mild mitral valve regurgitation (MR), and regional wall motion abnormalities. The left coronary artery could not be visualized. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery...
September 12, 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27599428/application-of-ips-cells-derived-from-congenital-myelodysplastic-syndrome-for-research-of-nomal-hematopoesis-and-hematological-malignancies
#15
Hideaki Nakajima
Induced pluripotent stem cells (iPSCs) are not only a valuable resource for regenerative medicine, but also a promising tool for disease modeling and drug discovery. Patient-specific iPSCs harboring disease-specific mutations are extremely useful for investigating disease mechanisms and novel treatment approaches. In the field of hematology, attempts to establish iPSCs from tumor cells such as those of leukemia or myelodysplastic syndrome (MDS) were largely unsuccessful because proper reprogramming processes were hampered by their extensive genetic alterations...
August 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27597992/association-between-fetal-cerebral-ventriculomegaly-and-platelet-alloimmunisation
#16
Gabriella Martillotti, Francoise Rypens, Michele David, Nancy Catalfamo, Johanne Dubé, Catherine Taillefer, Christian Lachance, François Audibert
INTRODUCTION: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition that may lead to intracerebral haemorrhage (ICH) in the fetus or neonate. Platelet alloimmunisation causing FNAIT has been described in association with fetal cerebral ventriculomegaly (VM), presumably due to subclinical ICH. The objective of this study was to assess the association between fetal VM and platelet alloimmunisation. METHODS: This is a case series of pregnancies with fetal VM screened for platelet alloantibodies from 2003 to 2012...
September 7, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27571125/a-rare-presentation-of-isolated-congenital-splenic-hemangioma-with-kasabach-merritt-syndrome
#17
Fredrick Dapaah-Siakwan, Carleene Bryan, Lashawndra S Walker, Teresa Del Moral
INTRODUCTION: Splenic hemangiomas (SHs) are the most common benign neoplasms of the spleen. However, they are rare in the newborn period. We present an extremely rare case of congenital SH complicated by Kasabach-Merritt syndrome. CASE PRESENTATION: A 2.93 kg male infant was delivered at term with a prenatal diagnosis of a left infrarenal mass diagnosed by ultrasound at 35 weeks of gestation. Magnetic resonance imaging demonstrated a well-defined splenic mass with multiple flow voids and scattered areas of high intensity suggestive of hemorrhage...
August 26, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27571123/phenotypic-heterogeneity-of-neutropenia-and-gastrointestinal-illness-associated-with-g6pc3-founder-mutation
#18
Chana L Glasser, Joseph A Picoraro, Preti Jain, Sivan Kinberg, Evelyn Rustia, Kara Gross Margolis, Kwame Anyane-Yeboa, Alejandro D Iglesias, Nancy S Green
Severe congenital neutropenia type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation. SCN IV has been linked to glycogen storage disease type 1b as both disorders involve disruption of the glucose-6-phosphatase/glucose-6-phosphate transporter complex, leading to arrested neutrophil maturation. Emerging evidence suggests that neutrophil function plays an important role in intestinal integrity, evidenced by inflammatory bowel disease in certain neutropenic patients...
October 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27498735/recent-advances-in-inherited-bone-marrow-failure-syndrome-research
#19
Etsuro Ito, Tsutomu Toki, Kiminori Terui
Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignancies. Diagnosis is often difficult due to the wide variety of clinical expressions. The representative diseases are Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital dyserhthropoietic anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Next-generation sequencing technologies have facilitated the discovery of germline mutations that cause IBMFS...
July 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27447537/thrombopoietin-induces-hematopoiesis-from-mouse-es-cells-via-hif-1%C3%AE-dependent-activation-of-a-bmp4-autoregulatory-loop
#20
Andri Pramono, Azadeh Zahabi, Tatsuya Morishima, Dan Lan, Karl Welte, Julia Skokowa
Understanding the molecular mechanisms underlying hematopoietic differentiation of embryonic stem (ES) cells may help to ascertain the conditions for the in vitro generation of hematopoietic cells. Previously, we found that patients with congenital amegakaryocytic thrombocytopenia (CAMT), who develop pancytopenia early after birth, harbor mutations within the thrombopoietin (TPO) receptor, c-MPL. This knowledge, together with observations in vitro and in vivo, suggests that TPO/c-MPL signaling promotes early hematopoiesis...
July 2016: Annals of the New York Academy of Sciences
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