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Congenital thrombocytopenia

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https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#1
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29399327/recent-advances-in-understanding-and-management-of-acquired-thrombocytopenia
#2
REVIEW
Srikanth Nagalla, Ravindra Sarode
There are numerous congenital and acquired causes of thrombocytopenia. Thrombocytopenia could be a result of decreased bone marrow production, increased consumption, increased destruction, splenic sequestration or a combination of these causes. In this review, we have focused on some of the serious acquired causes of thrombocytopenia. There have been some significant advances in our understanding of the pathophysiology, diagnostic testing, and treatment of immune thrombocytopenia, heparin-induced thrombocytopenia, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome over the past five years...
2018: F1000Research
https://www.readbyqxmd.com/read/29380037/a-novel-heterozygous-itgb3-p-t720del-inducing-spontaneous-activation-of-integrin-%C3%AE-iib%C3%AE-3-in-autosomal-dominant-macrothrombocytopenia-with-aggregation-dysfunction
#3
Naohiro Miyashita, Masahiro Onozawa, Koji Hayasaka, Takahiro Yamada, Ohsuke Migita, Kenichiro Hata, Kohei Okada, Hideki Goto, Masao Nakagawa, Daigo Hashimoto, Kaoru Kahata, Takeshi Kondo, Shinji Kunishima, Takanori Teshima
We identified a novel heterozygous ITGB3 p.T720del mutation in a pedigree with macrothrombocytopenia exhibiting aggregation dysfunction. Platelet aggregation induced by ADP and collagen was significantly reduced, while ristocetin aggregation was normal. Integrin αIIbβ3 was partially activated in a resting status, but platelet expression of αIIbβ3 was downregulated. Functional analysis using a cell line showed spontaneous phosphorylation of FAK in αIIb/β3 (p.T720del)-transfected 293T cells in suspension conditions...
January 29, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29357939/inherited-thrombotic-thrombocytopenic-purpura-mimicking-immune-thrombocytopenic-purpura-during-pregnancy-a-case-report
#4
Valter Romão de Souza, Ana Beatriz Cavalcante de Oliveira, Ana Maria Vanderlei, Amanda Queiroz da Mota Silveira Aroucha, Bruna Pontes Duarte, Aureli Nunes Machado, Lívia Netto Chaer, Cláudia Wanderley de Barros Correia, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
BACKGROUND: Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease...
January 22, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29313481/case-report-severe-plasmodium-vivax-malaria-mimicking-sepsis-in-a-neonate
#5
Suryadi N N Tatura, Elizabeth Clarissa Wowor, Jose M Mandei, Rocky Wilar, Sarah M Warouw, Johnny Rompis, Priscilla Kalensang, Joseph Tuda
Severe congenital malaria associated with Plasmodium vivax is uncommon. In Indonesia, most congenital malaria cases are due to Plasmodium falciparum infections. Most cases of congenital or neonatal malaria in endemic areas are diagnosed from peripheral smear as part of routine sepsis workup. Differentiating congenital and acquired neonatal malaria is very difficult. The case presented in this study describes severe P. vivax malaria with cholestatic jaundice and sepsis-like signs and symptoms in neonates. The mother was asymptomatic and the neonate was successfully treated with intravenous artesunate...
January 8, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29296828/gene-editing-rescue-of-a-novel-mpl-mutant-associated-with-congenital-amegakaryocytic-thrombocytopenia
#6
Cédric Cleyrat, Romain Girard, Eun H Choi, Éric Jeziorski, Thierry Lavabre-Bertrand, Sylvie Hermouet, Serge Carillo, Bridget S Wilson
Thrombopoietin (Tpo) and its receptor (Mpl) are the principal regulators of early and late thrombopoiesis and hematopoietic stem cell maintenance. Mutations in MPL can drastically impair its function and be a contributing factor in multiple hematologic malignancies, including congenital amegakaryocytic thrombocytopenia (CAMT). CAMT is characterized by severe thrombocytopenia at birth, which progresses to bone marrow failure and pancytopenia. Here we report unique familial cases of CAMT that presented with a previously unreported MPL mutation: T814C (W272R) in the background of the activating MPL G117T (K39N or Baltimore) mutation...
September 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29286575/myh9-macrothrombocytopenia-caused-by-a-novel-variant-e1421k-initially-presenting-as-apparent-neonatal-alloimmune-thrombocytopenia
#7
Benjamin J Samelson-Jones, Paula M Kramer, Michael Chicka, William T Gunning Iii, Michele P Lambert
MYH9-related disease is a rare cause of thrombocytopenia. We report an infant girl who presented with severe thrombocytopenia at birth and was initially diagnosed with and treated for neonatal alloimmune thrombocytopenia. However, persistent thrombocytopenia led to the suspicion of congenital thrombocytopenia and subsequent identification of a novel variant in MYH9 (E1421K). In silico analysis strongly predicts that this is a disruptive substitution. Immunofluorescent analysis of neutrophils demonstrates abnormal aggregates of MYH9 protein...
December 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29281614/potential-contribution-of-erythrocyte-microrna-to-secondary-erythrocytosis-and-thrombocytopenia-in-congenital-heart-disease
#8
Nobuhiro Mukai, Yoshinobu Nakayama, Satoshi Murakami, Toshihito Tanahashi, Daniel I Sessler, Sachiyo Ishii, Satoru Ogawa, Natsuko Tokuhira, Toshiki Mizobe, Teiji Sawa, Yasufumi Nakajima
BACKGROUND: Children with cyanotic heart disease develop secondary erythrocytosis and thrombocytopenia via unknown mechanisms. Mature erythrocyte microRNAs may reflect clinical pathologies and cell differentiation processes pre-enucleation. This study evaluated erythrocyte microRNAs in children with cyanotic heart disease. METHODS: Erythrocyte microRNAs from children with cyanotic and acyanotic heart disease and without cardiac disease were quantified with Ion PGM System (n=10 per group)...
December 27, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29250516/use-of-therapeutic-plasma-exchange-during-extracorporeal-life-support-in-critically-ill-cardiac-children-with-thrombocytopenia-associated-multi-organ-failure
#9
Mei Chong, Alejandro J Lopez-Magallon, Lucas Saenz, Mahesh S Sharma, Andrew D Althouse, Victor O Morell, Ricardo Munoz
Background: Thrombocytopenia-associated multi-organ failure (TAMOF) in children is a well-described factor for increased hospital mortality. Low cardiac output syndrome (LCOS) and the effects of cardiopulmonary bypass may manifest with several adverse physiologic and immunologic effects, with varying degrees of thrombocytopenia and multi-organ dysfunction, sometimes very similar to TAMOF. LCOS is a common occurrence in children with critical heart disease, presenting in as much as 23...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#10
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29217070/congenital-vascular-tumors
#11
REVIEW
Jeremy A Goss, Arin K Greene
Vascular tumors are benign neoplasms, which result from proliferating endothelial cells. These lesions present during infancy or childhood, may affect any location, and exhibit postnatal growth. Local complications include bleeding, tissue destruction, and pain whereas systemic sequelae include thrombocytopenia, congestive heart failure, and death. Vascular tumors should be differentiated from vascular malformations, which present at birth, have a quiescent endothelium, and grow in proportion to the child. Together, vascular tumors and malformations comprise the field of vascular anomalies...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29207763/carbamazepine-induced-thrombocytopenia
#12
Ruhi Kumar, Sridhar Chivukula, Goutham Reddy Katukuri, U K Chandrasekhar, K N Shivashankar
Antiepileptic Drugs (AEDs) are commonly associated with haematological disorders, including anaemia, thrombocytopenia, neutropenia and even bone marrow failure. Fatal disorders like aplastic anaemia are uncommon. On exploring through the literature, older AEDs are more associated with haematological alterations than newer AEDs, and careful monitoring is warranted especially with phenytoin, carbamazepine and valproate. The exact cause of these alterations is not established, though immune mechanisms and pharmacology of individual drugs are the proposed mechanisms, a further research along this path is underway...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29191945/thrombopoietin-mutation-in-congenital-amegakaryocytic-thrombocytopenia-treatable-with%C3%A2-romiplostim
#13
Alessandro Pecci, Iman Ragab, Valeria Bozzi, Daniela De Rocco, Serena Barozzi, Tania Giangregorio, Heba Ali, Federica Melazzini, Mohamed Sallam, Caterina Alfano, Annalisa Pastore, Carlo L Balduini, Anna Savoia
Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease-causing alterations. We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) of the THPO gene. Functional studies showed that p...
November 30, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29177397/-not-everything-is-zika-congenital-toxoplasmosis-still-prevalent-in-colombia
#14
Jorge L Alvarado-Socarras, Keyla Meneses-Silvera, Andrea Carolina Zarate-Vergara, Carlos Guerrero-Gomez, Alfonso J Rodriguez-Morales
Congenital toxoplasmosis continues to be a public health threat. Even existing guidelines, publicly known, its implementation and lack of appropriate interpretation of serological tests in pregnancy is often observed. This leds to failure in opportunities for positive and known interventions to decrease the fetal risk due to Toxoplasma gondii infection. We reported herein a case series, with variable neurological and systemic compromise (respiratory distress, hepatosplenomegaly, enterocolitis, brain calcifications, thrombocytopenia, ascites, shock), even fatal, calling for awareness about the fact that despite the Zika epidemics in 2015-2016 in Brazil, Colombia and other countries, precisely toxoplasmosis, is a differential diagnosis still prevalent in these territories, that can leds to severe consequences, with neurological disability and risk of ocular damage, even lately...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29171354/haematology-and-coagulation-profiles-in-cats-with-congenital-portosystemic-shunts
#15
Caitlin E Tzounos, Michael S Tivers, Sophie E Adamantos, Kate English, Alan L Rees, Vicky J Lipscomb
Objectives The objectives of this study were, first, to report the haematological parameters and coagulation times for cats with a congenital portosystemic shunt (CPSS) and the influence of surgical shunt attenuation on these parameters; and, second, to identify any association between prolongation in coagulation profiles and incidence of perioperative haemorrhage. Methods This was a retrospective clinical study using client-owned cats with a CPSS. Signalment, shunt type (extra- or intrahepatic), degree of shunt attenuation (complete or partial), haematological parameters, prothrombin time (PT) and activated partial thromboplastin time (aPTT) test results, and occurrence of any perioperative clinical bleeding complications were recorded for cats undergoing surgical treatment of a CPSS at the Royal Veterinary College, UK, between 1994 and 2011...
December 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/29073926/propranolol-in-the-preoperative-treatment-of-kasabach-merritt-syndrome-a-case-report
#16
Saša V Radović, Marija Kolinović, Darja Ljubić
BACKGROUND: Kasabach-Merritt syndrome represents the association of hemangioma with thrombocytopenia and consumptive coagulopathy. We present a case of Kasabach-Merritt syndrome treatment with orally administered propranolol. CASE PRESENTATION: A 4.5-month-old caucasian female infant with congenital giant hemangioma in the posterior region of her neck presented to our Institute for Childhood Diseases where she underwent clinical, laboratory, and radiological investigations...
October 27, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29040872/highly-elevated-plasma-level-of-von-willebrand-factor-accelerates-the-formation-of-platelet-thrombus-under-high-shear-stress-in-plasma-with-deficient-adamts13-activity
#17
Hideo Yagi, Naoko Yamaguchi, Yasuaki Shida, Mitsuhiko Sugimoto, Kazuo Tubaki, Yoshihiro Fujimura, Masanori Matsumoto
Upshaw-Schulman syndrome (USS) is a thrombo-hemorrhagic disease caused by congenital deficiency of ADAMTS13 due to ADAMTS13 gene mutations. USS is characterized by repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia that respond dramatically to infusions of fresh frozen plasma. There are two phenotypic expressions of USS: one is the early-onset type and the other, the late-onset type, is asymptomatic during childhood with the first bout of thrombotic thrombocytopenic purpura (TTP) developing after adolescence or during adulthood...
November 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28992325/congenital-babesiosis-after-maternal-infection-with-borrelia-burgdorferi-and-babesia-microti
#18
Kirsten Saetre, Neetu Godhwani, Mazen Maria, Darshan Patel, Guiqing Wang, Karl I Li, Gary P Wormser, Sheila M Nolan
We describe the cases of 2 infants with congenital babesiosis born to mothers with prepartum Lyme disease and subclinical Babesia microti infection. The infants both developed anemia, neutropenia, and thrombocytopenia, and 1 infant required red blood cell transfusion. Both infants recovered with treatment. Additional studies are warranted to define the optimal management strategy for pregnant women with early Lyme disease in geographic areas in which B microti infection is endemic.
September 16, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28979237/identification-of-mpl-r102p-mutation-in-hereditary-thrombocytosis
#19
Christine Bellanné-Chantelot, Matthieu Mosca, Caroline Marty, Rémi Favier, William Vainchenker, Isabelle Plo
The molecular basis of hereditary thrombocytosis is germline mutations affecting the thrombopoietin (TPO)/TPO receptor (MPL)/JAK2 signaling axis. Here, we report one family presenting two cases with a mild thrombocytosis. By sequencing JAK2 and MPL coding exons, we identified a germline MPL R102P heterozygous mutation in the proband and his daughter. Concomitantly, we detected high TPO levels in the serum of these two patients. The mutation was not found in three other unaffected cases from the family except in another proband's daughter who did not present thrombocytosis but had a high TPO level...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28978852/new-developments-in-treatment-modalities-of-thrombotic-thrombocytopenic-purpura
#20
Masanori Matsumoto
Although thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease, appropriate diagnosis and treatment result in the higher survival rate of >80%. TTP is usually suspected with thrombocytopenia and hemolytic anemia and is confirmed by a reduced activity of a disintegrin-like and metalloprotease with thrombospondin type 1 motif 13 (ADAMTS13) <10%. TTP is classified as acquired if a patient tests positive for anti-ADAMTS13 autoantibodies, and as congenital if ADAMTS13 gene abnormalities are identified...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
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