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Congenital thrombocytopenia

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https://www.readbyqxmd.com/read/29670795/pulmonary-vasculitis-and-a-horseshoe-kidney-in-noonan-syndrome
#1
Surasak Puvabanditsin, Rosanna Abellar, Adaora Madubuko, Rajeev Mehta, Lauren Walzer
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29659362/-recurrent-atypical-hemolytic-uremic-syndrome-after-renal-transplantation-treatment-with-eculizumab
#2
Ana B Latzke, Pehuén Fernández, Carlos Chiurchiu, Daniela Sarmantano, Javier De Arteaga, Walter Douthat, Jorge De la Fuente
Atypical hemolytic uremic syndrome (aHUS) is a rare entity. It is characterized by a thrombotic microangiopathy (nonimmune hemolytic anemia, thrombocytopenia, and acute renal failure), with a typical histopathology of thickening of capillary and arteriolar walls and an obstructive thrombosis of the vascular lumen. The syndrome is produced by a genetic or acquired deregulation of the alternative pathway of the complement system, with high rates of end stage renal disease, post-transplant recurrence, and high mortality...
2018: Medicina
https://www.readbyqxmd.com/read/29620681/-immune-thrombocytopenia-as-key-feature-of-a-novel-ada2-deficiency-variant-implication-on-differential-diagnostics-of-itp-in-children
#3
Mikael Sundin, Per Marits, Stefan Nierkens, Antonios G A Kolios, Jakob Nilsson
Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority of patients respond to immune-modulation by intravenous immunoglobulin G infusion or systemic corticosteroids. Differential diagnoses to childhood ITP includes thrombocytopenia due to infections, drugs, rheumatologic conditions, immune dysregulation, and inherited bone marrow failures, for example, congenital amegakaryocytic thrombocytopenia...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29605959/heparin-induced-thrombocytopenia-in-infants-after-heart-surgery
#4
Juma N Abdillah, Qinghua Hu, Xuliang Chen, Xing Chen, Wu Zhou, Wanjun Luo, Lingjin Huang
BACKGROUND:  Heparin-induced thrombocytopenia (HIT) in infants is a rare disorder, and the diagnosis and management of HIT still remains challenging. Argatroban is a synthetic direct thrombin inhibitor (DTI) that is widely used for treating HIT. However, little is known about the efficacy of the activated clotting time (ACT) test in monitoring DTI treatment as an alternative to the routinely used activated partial thromboplastin time (aPTT). METHODS:  Between July 2013 and January 2015, four infants were diagnosed with HIT after surgical correction of congenital anomalies...
April 1, 2018: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/29571951/-benign-aggressive-vascular-anomalies-in-children
#5
REVIEW
Olivia Boccara, Annabel Maruani, Christine Léauté-Labrèze
Superficial vascular anomalies constitute a large group of malformative and tumoral conditions developed from all types of vessels. Vascular tumors are the result of cellular hyperplasia, whereas vascular malformations (VMs) are constituted of dysplastic vessels. The classification from International Society for the Study of Vascular Anomalies (ISSVA) is based on this pathogenic difference. The most common vascular tumor is infantile hemangioma, which treatment, when necessary, is propranolol. Congenital hemangiomas and tumors that might be complicated with Kasabach-Merritt phenomenon, i...
March 20, 2018: Bulletin du Cancer
https://www.readbyqxmd.com/read/29540340/mecom-associated-syndrome-a-heterogeneous-inherited-bone-marrow-failure-syndrome-with-amegakaryocytic-thrombocytopenia
#6
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
https://www.readbyqxmd.com/read/29537938/aggregometry-in-the-settings-of-thrombocytopenia-thrombocytosis-and-antiplatelet-therapy
#7
GianMarco Podda, Mariangela Scavone, Eti Alessandra Femia, Marco Cattaneo
A variety of laboratory tests have been developed, which can diagnose a number of both congenital and acquired disorders of platelet function. Many tests of platelet function measure the ability of platelets to adhere to each other, forming platelet aggregates, which represent the major constituents of hemostatic plugs and of arterial thrombi. Light transmission aggregometry (LTA) is still considered the gold standard of platelet aggregation tests, but other platelet aggregation-based tests are also available...
March 14, 2018: Platelets
https://www.readbyqxmd.com/read/29523490/thrombotic-microangiopathy-in-a-very-young-infant-with-mitral-valvuloplasty
#8
Yuka Matsunaga, Masataka Ishimura, Hazumu Nagata, Kiyoshi Uike, Tadamune Kinjo, Masayuki Ochiai, Kenichiro Yamamura, Hidetoshi Takada, Yoshihisa Tanoue, Masaki Hayakawa, Masanori Matsumoto, Toshiro Hara, Shouichi Ohga
BACKGROUND: Thrombotic microangiopathies (TMA) are microvascular occlusive disorders characterized by systemic or intrarenal platelet aggregation, thrombocytopenia, and red cell fragmentation. Post-operative TMA mostly occurs in adult patients with cardiovascular surgery, with the distinct pathophysiology from classical thrombotic thrombocytopenic purpura (TTP) although the exact pathophysiology remains unclear. CASE PRESENTATION: A one-month-old infant developed TMA after the initial surgery of double outlet right ventricle...
February 7, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29520672/features-associated-with-pulmonary-arterial-hypertension-in-chinese-hospitalized-systemic-lupus-erythematosus-patients
#9
Shu-Zhen Xu, Yan Liang, Xiang-Pei Li, Xiao-Mei Li, Zong-Wen Shuai, Rui-Xue Leng, Hai-Feng Pan, Dong-Qing Ye
Pulmonary arterial hypertension (PAH) is an increasingly recognized complication of systemic lupus erythematosus (SLE). This study aims to estimate the point prevalence of PAH and identify risk factors for PAH in a large cohort of hospitalized SLE patients. We have collected the medical records of patients hospitalized with SLE at the First Affiliated Hospital of Anhui Medical University and Anhui Provincial Hospital. Resting transthoracic echocardiography (TTE) was used to estimate pulmonary artery pressure (PAP) and PAH was defined as systolic PAP (PASP) > 30 mmHg...
March 8, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29518067/update-noncongenital-zika-virus-disease-cases-50-u-s-states-and-the-district-of-columbia-2016
#10
Victoria Hall, William L Walker, Nicole P Lindsey, Jennifer A Lehman, Jonathan Kolsin, Kimberly Landry, Ingrid B Rabe, Susan L Hills, Marc Fischer, J Erin Staples, Carolyn V Gould, Stacey W Martin
Zika virus is a flavivirus primarily transmitted to humans by Aedes aegypti mosquitoes (1). Zika virus infections also have been documented through intrauterine transmission resulting in congenital infection; intrapartum transmission from a viremic mother to her newborn; sexual transmission; blood transfusion; and laboratory exposure (1-3). Most Zika virus infections are asymptomatic or result in mild clinical illness, characterized by acute onset of fever, maculopapular rash, arthralgia, or nonpurulent conjunctivitis; Guillain-Barré syndrome, meningoencephalitis, and severe thrombocytopenia rarely have been associated with Zika virus infection (1)...
March 9, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29513248/sclerotherapy-of-esophageal-varices-in-hemophilia-patients-with-liver-cirrhosis-a-prospective-controlled-clinical-study
#11
Andrzej B Szczepanik, Konrad Pielaciński, Anna M Oses-Szczepanik, Sławomir Huszcza, Andrzej Misiak, Wojciech P Dąbrowski, Sławomir Gajda
INTRODUCTION: Bleeding from esophageal varices is a serious clinical condition in hemophilia patients due to congenital deficiency or lack of clotting factors VIII (in hemophilia A) and IX (in hemophilia B), decreased clotting factor II, VII, IX, X synthesis in the course of chronic liver disease and hipersplenic thrombocytopenia. The aim of this study was to assess the efficacy and safety of endoscopic sclerotherapy in acute esophageal variceal bleeding and in secondary prophylaxis of hemorrhage...
February 28, 2018: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/29496554/congenital-hypoplastic-bone-marrow-failure-associated-with-a-de-novo-partial-deletion-of-the-mecom-gene-at-3q26-2
#12
Eigil Kjeldsen, Christopher Veigaard, Anni Aggerholm, Henrik Hasle
Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis...
February 26, 2018: Gene
https://www.readbyqxmd.com/read/29465581/atypical-microdeletion-in-22q11-deletion-syndrome-reveals-new-candidate-causative-genes-a-case-report-and-literature-review
#13
Huiping Shi, Zhaoyue Wang
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#14
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
#15
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
#16
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
#17
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
#18
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...
March 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
#19
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
#20
Benjamin J Samelson-Jones, Paula M Kramer, Michael Chicka, William T Gunning, 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...
April 2018: Pediatric Blood & Cancer
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