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https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#1
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/28393783/coagulopathies-in-cyanotic-cardiac-patients-an-analysis-with-three-point-of-care-testing-devices-thromboelastography-rotational-thromboelastometry-and-sonoclot-analyzer
#2
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
#3
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/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#4
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...
April 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28149700/retrospective-study-of-prognostic-factors-in-pediatric-invasive-pneumococcal-disease
#5
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/28051234/neonatal-lupus-erythematosus-with-congenital-heart-block-in-twins
#6
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/27987519/-autoimmune-disorder-secondary-to-digeorge-syndrome-a-long-term-follow-up-case-report-and-literature-review
#7
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/27753765/risk-adjustment-for-congenital-heart-surgery-score-as-a-risk-factor-for-candidemia-in-children-undergoing-congenital-heart-defect-surgery
#8
Fabio de Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
November 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27681010/preterm-thrombocytopenia-and-delay-of-ductus-arteriosus-closure
#9
Vinay Vamadev Kulkarni, Sourabh Dutta, Venkataseshan Sundaram, Shiv Sajan Saini
OBJECTIVES: To evaluate whether preterm thrombocytopenia within 24 hours of birth is associated with delayed closure of patent ductus arteriosus (PDA) and higher proportion of hemodynamically significant PDA (Hs-PDA). METHODS: Neonates (gestation 26(0/7)-33(6/7) weeks, age <24 hours) with known platelet count and PDA on echocardiogram were prospectively enrolled. Asphyxia, congenital infections, structural heart disease, major malformations and clinical sepsis were exclusions...
October 2016: Pediatrics
https://www.readbyqxmd.com/read/27294310/risk-adjustment-for-congenital-heart-surgery-score-as-a-risk-factor-for-candidemia-in-children-undergoing-congenital-heart-defect-surgery
#10
Fabio Araujo Motta, Libera Maria Dalla-Costa, Marisol Dominguez Muro, Andrea Lenzi, Gledson Luiz Picharski, Marion Burger
BACKGROUND: Candida species are the primary cause of invasive fungal infection in hospitalized children. There are few data on risk factors for postoperative candidemia in pediatric patients with congenital heart defects. This study aimed to identify risk factors for candidemia in patients with congenital heart defects who underwent cardiac surgery. METHODS: This was a case-control study conducted in patients admitted to a pediatric cardiology intensive care unit from January 2006 to December 2013...
June 10, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27256762/establishing-son-in-21q22-11-as-a-cause-a-new-syndromic-form-of-intellectual-disability-possible-contribution-to-braddock-carey-syndrome-phenotype
#11
Toshiki Takenouchi, Kiyokuni Miura, Tomoko Uehara, Seiji Mizuno, Kenjiro Kosaki
A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5-year-old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON. However, the combination of the truncating mutation in SON and the phenotype has not been reproduced until date, and it remains unclear if this combination represents a distinctive disease entity. Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26840886/congenital-rubella-syndrome-with-death-from-interstitial-pneumonia
#12
Yoshifumi Mizuno, Kyoko Yokoi, Satoshi Suzuki
There was a rubella epidemic in Japan in 2012-2013, which led to an increased number infants being born with congenital rubella syndrome (CRS). Symptoms of CRS are varied and include cataracts, congenital heart disease, and hearing impairment, but case reports of CRS complicated by interstitial pneumonia are rare. We report the case of a patient with CRS who died of respiratory failure caused by interstitial pneumonia. Thrombocytopenia had been present for approximately 1 month after birth, and the patient presented with sudden lung hemorrhage at 64 days old...
February 3, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/26829363/platelet-abnormalities-in-adults-with-severe-pulmonary-arterial-hypertension-related-to-congenital-heart-defects-eisenmenger-syndrome
#13
Anna Remková, Iveta Šimková, Tatiana Valkovičová, Monika Kaldarárová
Patients with severe pulmonary arterial hypertension suffer from life-threatening thrombotic and bleeding complications. The aim of this study was to compare selected platelet, endothelial, and coagulation parameters in healthy volunteers and patients with severe pulmonary arterial hypertension because of congenital heart defects. The study included healthy volunteers (n = 50) and patients with cyanotic congenital heart defects classified as Eisenmenger syndrome (n = 41). We investigated platelet count, mean platelet volume, and platelet aggregation - spontaneous and induced by various concentrations of five agonists...
December 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/26816960/thrombocytopenia-in-paediatric-icu-incidence-transfusion-requirement-and-role-as-prognostic-indicator
#14
Amarpreet Kaur, Gurmeet Kaur Sethi, Ram Kumar Goyal, Avneet Kaur, Rupinderjeet Kaur, Shashi Kant Dhir, Harshvardhan Gupta
INTRODUCTION: Thrombocytopenia is defined as platelet count less than 150×10(9)/L, it has a greater incidence in Intensive Care Units (ICUs) compared to wards and its most common cause is increased platelet consumption. AIMS: To investigate incidence of thrombocytopenia, platelet transfusions requirement, associated diseases and relationship between thrombocytopenia and mortality. MATERIALS AND METHODS: Eleven months hospital records between October 2013 and August 2014 of the PICU in a tertiary care teaching hospital was investigated retrospectively and 275 critically ill children formed the sample...
December 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/26808373/a-severe-congenital-neutropenia-type-4-case-g6pc3-mutation-presented-with-large-platelets-in-the-peripheral-smear
#15
Meriç Kaymak Cihan, Fatih Bolat, Hüseyin Onay, Ahmet Sari, Elif Ünver Korğali, Şükran Aslan, Ceylan Cura, Dilara İçağasioğlu
Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear...
May 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/26619497/staphylococcus-aureus-infections-in-children-with-congenital-heart-disease
#16
J Chase McNeil, John A Ligon, Kristina G Hulten, W Jeffrey Dreyer, Jeffrey S Heinle, Edward O Mason, Sheldon L Kaplan
BACKGROUND: Congenital heart disease (CHD) is the most common risk factor for infective endocarditis (IE) in children. Staphylococcus aureus is among the most common organisms to cause IE, yet there are little data describing the risk factors for invasive S aureus disease in children with CHD. We examined the epidemiology of S aureus infections in children with CHD. METHODS: Patients with a history of CHD and S aureus infection were identified from a surveillance study of S aureus infections at Texas Children's Hospital...
December 2013: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/26518681/a-novel-heterozygous-rit1-mutation-in-a-patient-with-noonan-syndrome-leukopenia-and-transient-myeloproliferation-a-review-of-the-literature
#17
REVIEW
Michaela Nemcikova, Sarka Vejvalkova, Filip Fencl, Martina Sukova, Anna Krepelova
UNLABELLED: Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other abnormalities. Germline mutations in genes involved in the RAS/MAPK signaling have been discovered to underlie NS. Recently, missense mutations in RIT1 have been reported as causative for individuals with clinical signs of NS. We report on a 2.5-year-old boy with NS phenotype with a novel heterozygous change in the RIT1 gene...
April 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/26479985/g6pc3-deficiency-primary-immune-deficiency-beyond-just-neutropenia
#18
Ayca Kiykim, Safa Baris, Elif Karakoc-Aydiner, Ahmet O Ozen, Ismail Ogulur, Suheyla Bozkurt, Cigdem C Ataizi, Kaan Boztug, Isil B Barlan
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital heart defects, urogenital malformations, endocrine abnormalities, and prominent superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading to bronchiectasis. In patient I and II, a combined immune deficiency was suspected due to early-onset disease with lymphopenia, neutropenia, and thrombocytopenia, along with variable reductions in lymphocyte subpopulations and favorable response to intravenous γ-globulin therapy...
November 2015: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/26408627/-monitoring-of-4-patients-with-heparin-induced-thrombocytopenia-after-complex-congenital-heart-surgery
#19
Jianhui Zhou, Jing Peng, Qian Li, Sisi Wei, Wenya Wu
From July 2013 to February 2015, 4 infant patients with complex congenital heart disease, who underwent open heart surgery in Xiangya Hospital of Central South University, were diagnosed as heparin-induced thrombocytopenia (HIT). After comprehensive treatments, such as intensive monitoring of the platelet count, close observation of thromboembolic skin lesions and close monitoring of argatroban therapy, 3 patients were cured and 1 died. HIT is rare but serious in patients who received heparin therapy. The incidence of mortality and thrombosis is very high...
September 2015: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/26267693/-heparin-induced-thrombocytopenia-in-patients-%C3%A2-undergoing-cardiac-surgery
#20
Fushuo Zhou, Lingjin Huang, E Wang, Guoqiang Lin, Wanjun Luo
OBJECTIVE: To investigate the incidence for heparin-induced thrombocytopenia (HIT) in patients undergoing cardiac surgery and to evaluate the risk factors for the generation of HIT-antibody.
 METHODS: A total of 315 patients undergoing cardiac surgery in the Department of Cardiothoracic Surgery, Xiangya Hospital between December, 2013 and July, 2014 were enrolled for this study. Among them, 120, 154 and 41 were for surgery of congenital heart defect, valve and coronary artery bypass graft, respectively...
July 2015: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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