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Congenital thrombocytopenia

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https://www.readbyqxmd.com/read/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#1
REVIEW
Antonio Alberto Zuppa, Riccardo Riccardi, Simonetta Frezza, Francesca Gallini, Rita Maria Paola Luciano, Giovanni Alighieri, Costantino Romagnoli, Sara De Carolis
Neonatal Lupus Syndrome (NLS) is a distinct clinical entity caused by transplacental passage of maternal anti-SSA/Ro antibodies (Ab). Mothers may have systemic lupus erythematosus, Sjögren syndrome, or other connective tissue disease, or may be completely healthy at the time of giving birth. NLS includes several clinical manifestations: complete congenital heart block (CCHB) and cutaneous lupus are the most common, while hepatobiliary disease, hematological manifestations and central nervous system involvement may occur...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28203325/inherited-thrombocytopenia-with-a-different-type-of-gene-mutation-a-brief-literature-review-and-two-case-studies
#2
Mohammad Taghi Arzanian
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28179280/gata-factor-mutations-in-hematologic-disease
#3
John D Crispino, Marshall S Horwitz
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28173660/-research-progress-in-congenital-amegakaryocytic-thrombocytopenia
#4
Y N Zhang, Q Zhang
No abstract text is available yet for this article.
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28151845/high-frequency-of-bone-marrow-depression-during-congenital-toxoplasmosis-therapy-in-a-cohort-of-children-identified-by-neonatal-screening-in-minas-gerais-brazil
#5
Ericka Viana Machado Carellos, Juliana Queiroz de Andrade, Roberta Maia Castro Romanelli, Jacqueline Domingos Tibúrcio, José Nélio Januário, Daniel Vítor Vasconcelos-Santos, Rosângela Maria Figueiredo, Gláucia Manzan Queiroz de Andrade
BACKGROUND: There are few studies reporting frequency and control of adverse events associated with congenital toxoplasmosis treatment. The objective of this study is to describe treatment adherence and adverse hematologic events in a cohort of children identified with congenital toxoplasmosis in Minas Gerais, Brazil. METHODS: Children were treated with sulfadiazine, pyrimethamine and folinic acid and were evaluated clinically and by laboratory tests at regular intervals...
January 31, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#6
Patrick M A Sleiman, Michael March, Kenny Nguyen, Lifeng Tian, Renata Pellegrino, Cuiping Hou, Walid Dridi, Mohamed Sager, Yousef H Housawi, Hakon Hakonarson
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia the Pierre-Robin sequence (PRS) and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss of function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well established cause of microcephaly. To our knowledge KIF15 is the first kinesin to be associated with congenital thrombocytopenia...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28149700/retrospective-study-of-prognostic-factors-in-pediatric-invasive-pneumococcal-disease
#7
Nan-Chang Chiu, Hsin Chi, Chun-Chih Peng, Hung-Yang Chang, Daniel Tsung-Ning Huang, Lung Chang, Wei-Te Lei, Chien-Yu Lin
Streptococcus pneumoniae remains the leading causative pathogen in pediatric pneumonia and bacteremia throughout the world. The invasive pneumococcal disease (IPD) is known as isolation of S. pneumoniae from a normally sterile site (e.g., blood, cerebrospinal fluid, synovial fluid, pericardial fluid, pleural fluid, or peritoneal fluid). The aim of this study is to survey the clinical manifestations and laboratory results of IPD and identify the prognostic factors of mortality. From January 2001 to December 2006, a retrospective review of chart was performed in a teaching hospital in Taipei...
2017: PeerJ
https://www.readbyqxmd.com/read/28102622/successful-surgical-management-of-congenital-kasabach-merritt-syndrome
#8
Sébastien Pascal, Quentin Bettex, Nicolas Andre, Philippe Petit, Dominique Casanova, Nathalie Degardin
Since the first description of Kasabach-Merritt syndrome (KMS) in 1940, many treatments have been proposed combining pharmacologic and non-pharmacologic approaches, which can be effective on the pathology but can have adverse and unpredictable side-effects with long-term use. Herein we describe the solely surgical treatment of Kasabach-Merritt syndrome in a neonate with a severe and rapidly progressive thrombocytopenia. The patient's condition normalized at 7 days postoperatively, with rapid increase in platelet count and normalization of d-dimer concentration...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28062601/bleeding-disorders-in-congenital-syndromes
#9
REVIEW
Susmita N Sarangi, Suchitra S Acharya
Pediatricians provide a medical home for children with congenital syndromes who often need complex multidisciplinary care. There are some syndromes associated with thrombocytopenia, inherited platelet disorders, factor deficiencies, connective tissue disorders, and vascular abnormalities, which pose a real risk of bleeding in affected children associated with trauma or surgeries. The risk of bleeding is not often an obvious feature of the syndrome and not well documented in the literature. This makes it especially hard for pediatricians who may care for a handful of children with these rare congenital syndromes in their lifetime...
January 6, 2017: Pediatrics
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#10
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28051234/neonatal-lupus-erythematosus-with-congenital-heart-block-in-twins
#11
Lamia Gargouri, Faiza Safi, Bayen Maalej, Souad Mallek, Fatma Turki, Imen Majdoub, Malek Akrout, Dorra Abid, Samir Kamoun, Abdelmajid Mahfoudh
Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases. Cases report - We report neonatal lupus erythematosus with complete congenital heart block in twins...
July 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28011677/n-acetylcysteine-in-preclinical-mouse-and-baboon-models-of-thrombotic-thrombocytopenic-purpura
#12
Claudia Tersteeg, Jan Roodt, Walter J Van Rensburg, Charlotte Dekimpe, Nele Vandeputte, Inge Pareyn, Aline Vandenbulcke, Barbara Plaimauer, Seb Lamprecht, Hans Deckmyn, José A Lopez, Simon F De Meyer, Karen Vanhoorelbeke
Thrombotic thrombocytopenic purpura (TTP) is a microangiopathic disorder diagnosed by thrombocytopenia and hemolytic anemia, associated with a deficiency in von Willebrand factor (VWF) cleaving protease ADAMTS13. Current treatment is based on plasma infusion for congenital TTP, or plasma exchange, often in combination with immunosuppressive agents, for acquired TTP. These treatment methods are however not always effective and therefore new treatment methods are highly necessary. N-acetylcysteine (NAC), an FDA-approved anti-mucolytic agent, could be a possible new treatment strategy for TTP as it was demonstrated to reduce disulfide bonds in VWF, thereby decreasing VWF multimer size and hence its prothrombotic potential...
December 23, 2016: Blood
https://www.readbyqxmd.com/read/27987519/-autoimmune-disorder-secondary-to-digeorge-syndrome-a-long-term-follow-up-case-report-and-literature-review
#13
Y Xie, J Q Guo, Y Hua, W H Zhao, Q Sun, X T Lu
DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27976561/congenital-malaria-importance-of-diagnosis-and-treatment-in-pregnancy
#14
Selvi Gülaşı, Nureddin Özdener
Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria endemic regions. We report an unusual case of a 23-day-old girl with neonatal Plasmodium vivax malaria, suspected primarily on the basis of positive maternal history that her mother had malaria during her pregnancy and was cured with chloroquine therapy. Infant presented with fever, thrombocytopenia and a significant parasitemia...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27958602/severe-to-profound-deafness-may-be-associated-with-myh9-related-disease-report-of-4-patients
#15
P Canzi, A Pecci, M Manfrin, E Rebecchi, C Zaninetti, V Bozzi, M Benazzo
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27908907/importance-of-diagnostic-work-up-of-guillain-barr%C3%A3-syndrome-in-pregnancy
#16
Elza Pollak-Christian, Kyong-Soon Lee
We report a full-term neonate presenting with symptomatic congenital cytomegalovirus (CMV) infection with hepatosplenomegaly, 'blueberry muffin' rash, intracranial calcifications, thrombocytopenia and respiratory distress. Maternal history was relevant for Guillain-Barré syndrome (GBS) during the first trimester of pregnancy. CMV infection is an important cause of GBS; thus, women presenting GBS during pregnancy should be screened for CMV infection. If positive, they may benefit from specialised monitoring and treatment in the antenatal period, which may decrease the risk of major neurodevelopmental sequelae of congenital CMV in the neonate...
December 1, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27882637/transplantation-associated-thrombotic-microangiopathy-isolated-to-a-congenital-anomaly-of-the-lung
#17
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...
February 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/27868334/consensus-on-the-standardization-of-terminology-in-thrombotic-thrombocytopenic-purpura-and-related-thrombotic-microangiopathies
#18
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
: Essentials An international collaboration provides a consensus for clinical definitions. This concerns thrombotic microangiopathies and thrombotic thrombocytopenic purpura (TTP). The consensus defines diagnosis, disease monitoring and response to treatment. Requirements for ADAMTS-13 are given. SUMMARY: Background Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) are two important acute conditions to diagnose. Thrombotic microangiopathy (TMA) is a broad pathophysiologic process that leads to microangiopathic hemolytic anemia and thrombocytopenia, and involves capillary and small-vessel platelet aggregates...
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
#19
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
#20
C Neuhaus, R Lang-Roth, U Zimmermann, R Heller, T Eisenberger, M Weikert, S Markus, M Knipper, H 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
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