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Congenital thrombocytopenia

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https://www.readbyqxmd.com/read/28771780/successful-combination-therapy-of-propranolol-and-prednisolone-for-a-case-with-congenital-kasabach-merritt-syndrome
#1
Kento Mizutani, Ai Umaoka, Kenshiro Tsuda, Masato Kakeda, Koji Habe, Keiichi Yamanaka, Megumi Suyama, Hitoshi Mizutani
A male fetus was delivered by cesarean section with a large hemangioma on his right chest and thrombocytopenia. Clinically, Kasabach-Merritt syndrome (KMS) was suspected, and immediately he was treated with daily prednisolone (PSL) 1 mg/kg and recombinant thrombomodulin without response. Additional propranolol (1-3 mg/kg per day) and increased PSL 2 mg/kg per day therapy successfully controlled his disseminated intravascular coagulation and decreased the tumor size without serious side-effects. No relapse of KMS was observed after cease of PSL and propranolol...
August 3, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28737602/treatment-of-congenital-thrombotic-thrombocytopenia-purpura-a-new-paradigm
#2
Louis M Aledort, Tammuella C Singleton, Paula J Ulsh
Congenital thrombotic thrombocytopenia purpura (cTTP) is a very rare disorder worldwide. Standard treatment of recognized cases has been to administer fresh frozen plasma as the source of ADAMTS13, to replenish the absent ADAMTS13 enzyme. An alternative source, a plasma-derived factor VIII concentrate used for hemophilia A, and found to contain this enzyme, was reported to be effective in 1 patient in the United States. We now report details on a US cohort of 8 cTTP patients who have been successfully treated for varying periods with a marketed antihemophilic factor concentrate Koate-DVI...
July 21, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28727239/how-to-differentiate-congenital-from-noncongenital-chronic-neutropenia-at-the-first-medical-examination-proposal-of-score-a-pilot-study-from-the-french-severe-chronic-neutropenia-registry
#3
Naim Bejjani, Blandine Beaupain, Yves Bertrand, Christine Bellanne-Chantelot, Jean Donadieu
OBJECTIVES: We developed a diagnostic score to differentiate congenital from noncongenital neutropenia at the time of diagnosis using reliable data collected at the first visit of a patients with neutropenia. STUDY DESIGN: In a pilot retrospective study, we included 120 patients diagnosed with chronic neutropenia; 61 had congenital and 59 had noncongenital neutropenia. We reviewed patient medical charts and collected the initial complete blood count (CBC) and other reliable data...
July 20, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28697167/congenital-amegakaryocytic-thrombocytopenia-a-case-series-indicating-2-founder-variants-in-the-mississippi-band-of-choctaw-indians
#4
Laura A Newman, Meghan A Luter, Dereck B Davis, Omar A Abdul-Rahman, Juantina M Johnson, Gail C Megason
Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants in these cases: R90X and R537W. One variant was previously reported only once and had unclear significance at that time...
July 10, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28678087/a-severe-case-of-congenital-thrombotic-thrombocytopenia-purpura-resulting-from-compound-heterozygosity-involving-a-novel-adamts13-pathogenic-variant
#5
Erin Conboy, Paige I Partain, Deepti Warad, Michelle L Kluge, Carola Arndt, Dong Chen, Vilmarie Rodriguez
We report a 9-year-old Chinese girl with congenital thrombotic thrombocytopenic purpura found to be a compound heterozygote for 2 pathogenic variants in the ADAMTS13 gene, including a novel variation. The girl suffered from recurrent, life-threatening episodes of thrombocytopenia and hemolysis, and laboratory testing showed ADAMST13 enzyme activity of <5%. Sequencing of the ADAMTS13 gene revealed a previously reported missense variant, c.1787C>T (p.Ala596Val), and a novel duplication defined as c.1007_1025dup19 (p...
July 3, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#6
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28630121/a-novel-recombinant-human-thrombopoietin-therapy-for-the-management-of-immune-thrombocytopenia-in-pregnancy
#7
Zhangyuan Kong, Ping Qin, Shan Xiao, Hai Zhou, Hong Li, Renchi Yang, Xiaofan Liu, Jianmin Luo, Zhichun Li, Guochao Ji, Zhongguang Cui, Yusheng Bai, Yuxia Wu, Linlin Shao, Jun Peng, Jun Ma, Ming Hou
The aim of this study was to determine the safety and efficacy of recombinant human thrombopoietin (rhTPO) for the management of immune thrombocytopenia (ITP) during pregnancy. Pregnant ITP patients were enrolled in the study if they had a platelet count of < 30 × 10(9)/L, were experiencing bleeding manifestations, had failed to respond to corticosteroids and/or intravenous immunoglobulin (IVIG), and had developed refractoriness to platelet transfusion. Thirty-one patients received rhTPO at an initial dose of 300U/kg once daily for 14 days...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28611971/diagnosis-and-management-of-hepatobiliary-complications-in-autosomal-recessive-polycystic-kidney-disease
#8
REVIEW
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28575217/comprehensive-platelet-phenotypic-laboratory-testing-and-bleeding-history-scoring-for-diagnosis-of-suspected-hereditary-platelet-disorders-a-single-institution-experience
#9
Juliana Perez Botero, Deepti M Warad, Rong He, Cindy B Uhl, Shulan Tian, Gregory E Otteson, Ryan L Barness, Mary C Olson, Susan C Gossman, Jon E Charlesworth, William L Nichols, Rajiv K Pruthi, Dong Chen
Objectives: Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics of the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) and clinically validated platelet laboratory tests for diagnosis of HPDs. Methods: The records of 61 patients with suspected HPDs were reviewed and ISTH-BAT scores calculated. Results: Nineteen (31%) patients had thrombocytopenia, and 46 (75%) had positive ISTH-BAT scores...
June 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28566565/gata-transcription-factors-basic-principles-and-related-human-disorders
#10
Tohru Fujiwara
The development of mature blood cell from hematopoietic stem cells is regulated by transcription factors that coordinate the expression of lineage-specific genes. GATA transcription factors are zinc finger DNA-binding proteins that play crucial roles in various biological processes, including hematopoiesis. Among GATA family proteins, GATA-1, GATA-2, and GATA-3 are essential for hematopoiesis. GATA-1 functions to promote development of erythrocytes, megakaryocytes, eosinophils, and mast cells. Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia...
June 2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28550351/diagnostic-and-treatment-guidelines-for-thrombotic-thrombocytopenic-purpura-ttp-2017-in-japan
#11
Masanori Matsumoto, Yoshihiro Fujimura, Hideo Wada, Koichi Kokame, Yoshitaka Miyakawa, Yasunori Ueda, Satoshi Higasa, Takanori Moriki, Hideo Yagi, Toshiyuki Miyata, Mitsuru Murata
Thrombotic thrombocytopenic purpura (TTP) can rapidly progress into a life-threatening condition, thus the importance of appropriate diagnosis and treatment cannot be overstated. Until recently, TTP has mainly been diagnosed by clinical findings such as thrombocytopenia and non-immune hemolytic anemia. In addition to these clinical findings, however, reduced activity of a disintegrin-like and metalloprotease with thrombospondin type 1 motif 13 (ADAMTS13) below 10% has been accepted internationally as a diagnostic criterion for TTP...
July 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28523896/hemophagocytic-lymphohistiocytosis-in-a-newborn-presenting-as-blueberry-muffin-baby
#12
Krista N Larson, Sergio R Gaitan, Benjamin J Stahr, Dean S Morrell
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled activation and proliferation of proinflammatory cytokines. Initial presentation commonly includes fever, hepatosplenomegaly, and pancytopenia; 6 to 65% of cases also have a concurrent cutaneous eruption. We present the case of a 6-day-old premature infant boy with congenital severe thrombocytopenia, anemia, and hepatosplenomegaly who presented with several cutaneous violaceous papules and nodules and was found to have HLH...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28491877/nodular-regenerative-hyperplasia-a-case-of-rare-prognosis
#13
Mindy Lee, Manhal Izzy, Ashwin Akki, Kathryn Tanaka, Harmit Kalia
Introduction: Nodular regenerative hyperplasia (NRH) is a known etiology of noncirrhotic portal hypertension. Cases of biopsy-proven NRH in human immunodeficiency virus (HIV)-positive patients have been described. While these patients often have normal synthetic liver function, several reports described disease progression to liver failure. Case: We here present a 26-year-old woman with history of congenital HIV on antiretroviral therapy complicated by Pneumocystis carinii pneumonia at age 14. CD4 counts have been >300 with undetectable viral load...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28443948/relapse-of-congenital-thrombotic-thrombocytopenic-purpura-after-spontaneous-remission-in-a-second-trimester-primigravida-case-report-and-review-of-the-literature
#14
Donavan de Souza Lúcio, Jacqueline Foelkel Pignatari, Marcelo Gil Cliquet, Henri Augusto Korkes
CONTEXT: Thrombotic microangiopathy syndrome or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) describes distinct diseases sharing common pathological features: microangiopathic hemolytic anemia and thrombocytopenia, without any other apparent cause. CASE REPORT: An 18-year-old second-trimester primigravida presented with a history of fifteen days of intense weakness, followed by diarrhea over the past six days. She reported having had low platelets since childhood, but said that she had never had bleeding or menstrual abnormalities...
April 20, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#15
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28395563/persistent-intestinal-bleeding-due-to-severe-cmv-related-thrombocytopenia-in-a-preterm-newborn
#16
Alberto Berardi, Eugenio Spaggiari, Chiara Cattelani, Maria Federica Roversi, Monica Pecorari, Tiziana Lazzarotto, Fabrizio Ferrari
The optimal threshold for neonatal platelet transfusions in sick newborns is still uncertain. We report a congenital cytomegalovirus (CMV) infection in a premature neonate with severe thrombocytopenia who subsequently presented with necrotizing enterocolitis and intestinal bleeding. The baby recovered after platelet transfusions were discontinued and the therapy was switched from intravenous ganciclovir to oral valganciclovir. We discuss both measures, speculating on the key role of platelet transfusions.
April 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28393783/coagulopathies-in-cyanotic-cardiac-patients-an-analysis-with-three-point-of-care-testing-devices-thromboelastography-rotational-thromboelastometry-and-sonoclot-analyzer
#17
Vandana Bhardwaj, Poonam Malhotra, Suruchi Hasija, Ujjwal Kumar Chowdury, Neha Pangasa
INTRODUCTION: In the last few years, viscoelastic point-of-care (POC) coagulation devices such as thromboelastography (TEG), rotational thromboelastometry (ROTEM), and Sonoclot (SON) analyzer have been increasingly used in major surgeries for timely assessment and management of coagulopathies. The aim of the present study was to evaluate coagulation profile of cyanotic cardiac patients with TEG, ROTEM, and SON analyzer. In addition, we assessed the correlation of standard laboratory coagulation tests and postoperative chest drain output (CDO) with the parameters of POC testing devices...
April 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28382967/thrombotic-thrombocytopenic-purpura
#18
REVIEW
Johanna A Kremer Hovinga, Paul Coppo, Bernhard Lämmle, Joel L Moake, Toshiyuki Miyata, Karen Vanhoorelbeke
Thrombotic thrombocytopenic purpura (TTP; also known as Moschcowitz disease) is characterized by the concomitant occurrence of often severe thrombocytopenia, microangiopathic haemolytic anaemia and a variable degree of ischaemic organ damage, particularly affecting the brain, heart and kidneys. Acute TTP was almost universally fatal until the introduction of plasma therapy, which improved survival from <10% to 80-90%. However, patients who survive an acute episode are at high risk of relapse and of long-term morbidity...
April 6, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28343935/blood-derived-products-in-pediatrics-new-laboratory-tools-for-optimizing-potency-assignment-and-reducing-side-effects
#19
REVIEW
Jean Amiral, Jerard Seghatchian
Neonates and children can develop rare bleeding disorders due to congenital/acquired coagulation Factor deficiencies, or allo-immune/autoimmune complications, or can undergo surgeries at high haemorrhagic risk. They then need specialized transfusion of blood components/products, or purified blood extracted products or recombinant proteins. Blood-derived therapies conventionally used for management of affected infants with genetic/acquired deficiencies, bleeding problems (coagulation Factor reduced or missing) or thrombotic disorders (reduced or missing anticoagulant proteins) pose some additional risks...
April 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28259746/acute-myeloid-leukemia-in-a-patient-with-thrombocytopenia-with-absent-radii-a-case-report-and-review-of-the-literature
#20
Maximilian Jameson-Lee, Katherine Chen, Ellen Ritchie, Tsiporah Shore, Omar Al-Khattab, Usama Gergis
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associated with bone marrow failure or malignancy. Janus kinase-2, myeloproliferative leukemia protein, and calreticulin are not mutated in TAR patients. Only four cases of leukemia were reported in TAR patients in the literature: three acute myeloid leukemia (AML) and one acute lymphoblastic leukemia...
February 24, 2017: Hematology/oncology and Stem Cell Therapy
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