keyword
MENU ▼
Read by QxMD icon Read
search

Congenital thrombocytopenia

keyword
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
October 10, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28992325/congenital-babesiosis-after-maternal-infection-with-borrelia-burgdorferi-and-babesia-microti
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28976612/inherited-thrombocytopenia-caused-by-ankrd26-mutations-misdiagnosed-and-treated-as-myelodysplastic-syndrome-report-on-two-cases
#12
C Zaninetti, V Santini, M Tiniakou, S Barozzi, A Savoia, A Pecci
Essentials Thrombocytopenia 2 (THC2) is an inherited thrombocytopenia (IT) with dysmegakaryopoiesis. Physicians often do not suspect the genetic origin of thrombocytopenia in patients with THC2. We report two THC2 patients misdiagnosed with myelodysplasia and treated with chemotherapy. IT should be always considered in patients with isolated thrombocytopenia and dysmegakaryopoiesis. SUMMARY: Thrombocytopenia 2 (THC2) is an autosomal-dominant disorder caused by point substitutions in the 5'UTR of the ANKRD26 gene...
October 4, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28940540/successful-kidney-transplantation-in-a-patient-with-congenital-thrombotic-thrombocytopenic-purpura-upshaw-schulman-syndrome
#13
Hasan Fattah, Dhiren Kumar, James N George, H Davis Massey, Anne L King, Kenneth D Friedman, Gaurav Gupta
BACKGROUND: Congenital thrombotic thrombocytopenic purpura (TTP) may not be recognized until organ failure related to the microvascular thrombosis occurs. Kidney failure may be the initial presenting clinical feature. Kidney transplantation has been contraindicated because of the assumption that the continuing microvascular thrombosis will cause inevitable graft failure. CASE REPORT: We report a 48-year-old nulliparous woman who presented with end-stage kidney disease that was attributed to hypertension...
September 20, 2017: Transfusion
https://www.readbyqxmd.com/read/28904689/severe-neonatal-cytomegalovirus-infection-about-a-case
#14
Brahim El Hasbaoui, Amal Bousselamti, Mohammed Amine Redouani, Amina Barkat
Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28883277/siblings-with-congenital-thrombotic-thrombocytopenic-purpura
#15
Yasutomo Funakoshi, Masahiko Okada, Masanori Matsumoto, Koichi Kokame, Hiroyuki Moriuchi
Congenital thrombotic thrombocytopenic purpura (TTP) is a rare hereditary deficiency of ADAMTS13 (von Willebrand factor-cleaving protease) characterized by thrombocytopenia and microangiopathic hemolytic anemia. The spectrum of the clinical phenotype is wide, ranging from asymptomatic episodes of thrombocytopenia to life-threatening multiorgan failure. Reportedly, some patients develop isolated thrombocytopenia during childhood. We herein report sibling cases of congenital TTP. An 11-year-old boy with thrombocytopenia accompanied by influenza virus infection was referred to our hospital...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28880458/determinants-of-platelet-count-in-pediatric-patients-with-congenital-cyanotic-heart-disease-role-of-immature-platelet-fraction
#16
Randa M Matter, Iman A Ragab, Alaa M Roushdy, Ahmed G Ahmed, Hanan H Aly, Eman A Ismail
OBJECTIVES: Congenital heart defects are common noninfectious causes of mortality in children. Bleeding and thrombosis are both limiting factors in the management of such patients. We assessed the frequency of thrombocytopenia in pediatric patients with congenital cyanotic heart disease (CCHD) and evaluated determinants of platelet count including immature platelet fraction (IPF) and their role in the pathogenesis of thrombocytopenia. METHODS: Forty-six children and adolescents with CCHD during pre-catheter visits were studied; median age was 20...
September 7, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28865079/acquired-erythropoietic-uroporphyria-secondary-to-myelodysplastic-syndrome-with-chromosome-3-alterations-a-case-report
#17
S Podlipnik, F Guijarro, A Combalia, J To-Figueras, C Badenas, D Costa, M Rozman, S Jorge, P Aguilera, A Gaya
Congenital erythropoietic porphyria (CEP) is a rare, autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase (UROS), due to mutations in the UROS gene in chromosome 10. On occasion, patients show a mild late-onset disease, without germline UROS mutations, associated with hematologic malignancies. We report a 65-year-old patient with photosensitivity, porphyrins overexcretion and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possible due to an inversion including 3q21 and 3q26 breakpoints...
September 2, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28859041/case-report-clinical-variation-in-children-with-thrombopoietin-receptor-c-mpl-mutations-report-of-2-cases
#18
Clara Lo, Elysia Alvarez, Robert S Ohgami, Michael Jeng
Congenital amegakaryocytic thrombocytopenia (CAMT, MIM# 604498) is a rare congenital bone marrow failure syndrome which presents early in life with abnormal bleeding because of thrombocytopenia. Classically, megakaryocytes are decreased to absent in the bone marrow. The development of aplastic anemia early in childhood has led to the recommendation for early stem cell transplantation. Quantitative or loss-of-function mutations in the myeloproliferative leukemia gene (c-mpl), whose gene product functions as the thrombopoietin receptor, have been identified as causative for CAMT...
August 30, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28833243/a-novel-homozygous-frameshift-mutation-in-exon-7-of-the-adamts13-gene-in-a-patient-with-congenital-thrombotic-thrombocytopenic-purpura-from-india-a-case-report
#19
Sneha Yadav, Shrimati Shetty, Bipin Kulkarni
BACKGROUND: Thrombotic thrombocytopenia purpura (TTP) is a rare and life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. It is caused by deficiency of ADAMTS13 metalloprotease, which cleaves ultra-large von Willebrand factor into smaller functional units. TTP may be congenital or acquired, and the congenital form is caused by inherited mutations in the ADAMTS13 gene, leading to deficiency of protein or reduced protein activity...
August 21, 2017: Transfusion
https://www.readbyqxmd.com/read/28771780/successful-combination-therapy-of-propranolol-and-prednisolone-for-a-case-with-congenital-kasabach-merritt-syndrome
#20
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
keyword
keyword
45022
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"