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https://www.readbyqxmd.com/read/28211198/safety-of-antifibrinolytics-in-cranial-vault-reconstructive-surgery-a-report-from-the-pediatric-craniofacial-collaborative-group
#1
Susan M Goobie, Franklyn P Cladis, Chris D Glover, Henry Huang, Srijaya K Reddy, Allison M Fernandez, David Zurakowski, Paul A Stricker, Heike Gries
BACKGROUND: Antifibrinolytic therapy significantly decreases blood loss and transfusion in pediatric cranial vault reconstructive surgery; however, concern regarding the side effects profile limits clinical use. AIMS: The aim was to utilize the Pediatric Craniofacial Surgery Perioperative Registry database to identify the safety profile of antifibrinolytic therapy for cranial vault reconstructive surgery by reporting the incidence of adverse events as they relate to exposure to tranexamic acid and aminocaproic acid compared to no exposure to antifibrinolytics...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28203768/tranexamic-acid-still-far-to-go
#2
S M Goobie
No abstract text is available yet for this article.
March 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/27992637/association-of-preoperative-anemia-with-postoperative-mortality-in-neonates-reply
#3
Susan M Goobie, David Faraoni, James A DiNardo
No abstract text is available yet for this article.
February 1, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#4
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27977460/perioperative-outcomes-and-management-in-pediatric-complex-cranial-vault-reconstruction-a-multicenter-study-from-the-pediatric-craniofacial-collaborative-group
#5
Paul A Stricker, Susan M Goobie, Franklyn P Cladis, Charles M Haberkern, Petra M Meier, Srijaya K Reddy, Thanh T Nguyen, Lingyu Cai, Marcia Polansky, Peter Szmuk, John Fiadjoe, Codruta Soneru, Ricardo Falcon, Timothy Petersen, Courtney Kowalczyk-Derderian, Nicholas Dalesio, Stefan Budac, Neels Groenewald, Daniel Rubens, Douglas Thompson, Rheana Watts, Katherine Gentry, Iskra Ivanova, Mali Hetmaniuk, Vincent Hsieh, Michael Collins, Karen Wong, Wendy Binstock, Russell Reid, Kim Poteet-Schwartz, Heike Gries, Rebecca Hall, Jeffrey Koh, Carolyn Bannister, Wai Sung, Ranu Jain, Allison Fernandez, Gerald F Tuite, Ernesto Ruas, Oleg Drozhinin, Lisa Tetreault, Bridget Muldowney, Karene Ricketts, Patrick Fernandez, Lisa Sohn, John Hajduk, Brad Taicher, Jessica Burkhart, Allison Wright, Jane Kugler, Lea Barajas-DeLoa, Meera Gangadharan, Veronica Busso, Kayla Stallworth, Susan Staudt, Kristen L Labovsky, Chris D Glover, Henry Huang, Helena Karlberg-Hippard, Samantha Capehart, Cynthia Streckfus, Kim-Phuong T Nguyen, Peter Manyang, Jose Luis Martinez, Jennifer K Hansen, Heather Mitzel Levy, Alyssa Brzenski, Franklin Chiao, Pablo Ingelmo, Razaz Mujallid, Olutoyin A Olutoye, Tariq Syed, Hubert Benzon, Adrian Bosenberg
BACKGROUND: The Pediatric Craniofacial Collaborative Group established the Pediatric Craniofacial Surgery Perioperative Registry to elucidate practices and outcomes in children with craniosynostosis undergoing complex cranial vault reconstruction and inform quality improvement efforts. The aim of this study is to determine perioperative management, outcomes, and complications in children undergoing complex cranial vault reconstruction across North America and to delineate salient features of current practices...
February 2017: Anesthesiology
https://www.readbyqxmd.com/read/27870741/relationship-between-preoperative-anemia-and-in-hospital-mortality-in-children-undergoing-noncardiac-surgery
#6
David Faraoni, James A DiNardo, Susan M Goobie
BACKGROUND: The relationship between preoperative anemia and in-hospital mortality has not been investigated in the pediatric surgical population. We hypothesized that children with preoperative anemia undergoing noncardiac surgery may have an increased risk of in-hospital mortality. METHODS: We identified all children between 1 and 18 years of age with a recorded preoperative hematocrit (HCT) in the 2012, 2013, and 2014 American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) pediatric databases...
December 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27510707/multivariable-predictors-of-substantial-blood-loss-in-children-undergoing-craniosynostosis-repair-implications-for-risk-stratification
#7
Petra M Meier, David Zurakowski, Susan M Goobie, Mark R Proctor, John G Meara, Vanessa J Young, Gary F Rogers, James A DiNardo
BACKGROUND: Operative treatment of craniosynostosis is associated with substantial blood loss, often requiring transfusion of packed red blood cells (PRBC) and coagulation products. AIMS: The aim of this prospective study was to analyze thromboelastographic (TEG) parameters and platelet fibrinogen product to determine predictors of substantial blood loss, and the need for PRBC transfusion and coagulation products. METHODS: With IRB approval, we enrolled 120 children undergoing craniosynostosis repair with a standardized anesthetic, fluid management, and TEG measurements at predefined times...
October 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27461765/the-translational-value-of-chart-reviews-and-the-need-for-trials
#8
EDITORIAL
Andrew Davidson, Susan M Goobie
No abstract text is available yet for this article.
September 2016: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27428875/association-of-preoperative-anemia-with-postoperative-mortality-in-neonates
#9
Susan M Goobie, David Faraoni, David Zurakowski, James A DiNardo
IMPORTANCE: Neonates undergoing noncardiac surgery are at risk for adverse outcomes. Preoperative anemia is a strong independent risk factor for postoperative mortality in adults. To our knowledge, this association has not been investigated in the neonatal population. OBJECTIVE: To assess the association between preoperative anemia and postoperative mortality in neonates undergoing noncardiac surgery in a large sample of US hospitals. DESIGN, SETTING, AND PARTICIPANTS: Using data from the 2012 and 2013 pediatric databases of the American College of Surgeons National Surgical Quality Improvement Program, we conducted a retrospective study of neonates undergoing noncardiac surgery...
September 1, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27401674/relationship-between-transfusion-volume-and-outcomes-in-children-undergoing-noncardiac-surgery
#10
Susan M Goobie, James A DiNardo, David Faraoni
BACKGROUND: The objective of this study was to assess the relationship between the volume of red blood cells (RBCs) transfused and outcomes in children undergoing noncardiac surgery. STUDY DESIGN AND METHODS: Children undergoing noncardiac surgery recorded in the 2012 and 2013 American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) pediatric databases were included. Outcomes included 30-day mortality and the incidence of major postoperative complications...
October 2016: Transfusion
https://www.readbyqxmd.com/read/27195815/molecular-characterization-of-nrxn1-deletions-from-19-263-clinical-microarray-cases-identifies-exons-important-for-neurodevelopmental-disease-expression
#11
Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Chumei Li, Susan Zeesman, Malgorzata J M Nowaczyk, Lee-Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A Tarnopolsky, Chitra Prasad, Paul T Dick, Asmaa S Hussain, Margreet Walinga, Renske G Reijenga, Matthew Gazzellone, Anath C Lionel, Christian R Marshall, Stephen W Scherer, Dimitri J Stavropoulos, Elizabeth McCready, Anne S Bassett
PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions. METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions. RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8...
May 19, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27017532/tranexamic-acid-use-in-united-states-children-s-hospitals
#12
Daniel K Nishijima, Michael C Monuteaux, David Faraoni, Susan M Goobie, Lois Lee, Joseph Galante, James F Holmes, Nathan Kuppermann
BACKGROUND: The prevalence of tranexamic acid (TXA) use for trauma and other conditions in children is unknown. OBJECTIVES: The objective of this study was to describe the use of TXA in United States (US) children's hospitals for children in general, and specifically for trauma. METHODS: We conducted a secondary analysis of a large, administrative database of 36 US children's hospitals. We included children <18 years of age who received TXA (based on pharmacy charge codes) between 2009 and 2013...
June 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/26892415/post-operative-outcomes-in-children-with-and-without-congenital-heart-disease-undergoing-noncardiac-surgery
#13
MULTICENTER STUDY
David Faraoni, David Zurakowski, Daniel Vo, Susan M Goobie, Koichi Yuki, Morgan L Brown, James A DiNardo
BACKGROUND: Significant advances have been made in the diagnosis and treatment of children with congenital heart disease (CHD), allowing for longer life expectancies and an increasing number who will require noncardiac surgery. OBJECTIVES: This study sought to compare the incidence of mortality and major adverse post-operative outcomes following noncardiac surgery in children with and without CHD. METHODS: Data from the 2012 pediatric database of the American College of Surgeons National Surgical Quality Improvement Program were analyzed...
February 23, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/26844864/perioperative-bleeding-management-in-pediatric-patients
#14
Susan M Goobie, Thorsten Haas
PURPOSE OF REVIEW: Managing the bleeding pediatric patient perioperatively can be extremely challenging. The primary goals include avoiding hypotension, maintaining adequate tissue perfusion and oxygenation, and maintaining hemostasis. Traditional bleeding management has consisted of transfusion of autologous blood products, however, there is strong evidence that transfusion-related side-effects are associated with increased morbidity and mortality in children. Especially concerning is the increased reported incidence of noninfectious adverse events such as transfusion-related acute lung injury, transfusion-related circulatory overload and transfusion-related immunomodulation...
June 2016: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/26613167/cerebellar-liponeurocytoma-a-rare-intracranial-tumor-with-possible-familial-predisposition-case-report
#15
Amparo Wolf, Huda Alghefari, Daria Krivosheya, Michael D Staudt, Gregory Bowden, David R Macdonald, Sharan Goobie, David Ramsay, Matthew O Hebb
The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma...
July 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/26507915/a-blood-transfusion-can-save-a-child-s-life-or-threaten-it
#16
EDITORIAL
Susan M Goobie
No abstract text is available yet for this article.
December 2015: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/26361991/biotinidase-deficiency-spectrum-of-molecular-enzymatic-and-clinical-information-from-newborn-screening-ontario-canada-2007-2014
#17
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, Melanie Napier, Sharan Goobie, Murray Potter, Pranesh Chakraborty, Maria Karaceper, Tatiana Munoz, Andreas Schulze, Jennifer MacKenzie, Lihua Li, Michael T Geraghty, Osama Y Al-Dirbashi, C Anthony Rupar
Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay. Ontario, Canada incorporated this treatable deficiency in newborn screening over the past 8years. This study elucidates the molecular, biochemical, and clinical findings from the pilot project. Information from initial screens, serum biotinidase activity level assays, molecular testing, and family history for 246 positive newborns screens were analyzed...
November 2015: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/26125105/malignancies-in-systemic-lupus-erythematosus-a-2015-update
#18
REVIEW
Gillian C Goobie, Sasha Bernatsky, Rosalind Ramsey-Goldman, Ann E Clarke
PURPOSE OF REVIEW: Patients with systemic lupus erythematosus (SLE) have altered incidences of certain malignancies as compared with the general population. This review summarizes the recent literature on risk of malignancy in SLE and proposed mechanisms for these altered susceptibilities. RECENT FINDINGS: Recent studies have confirmed previous data showing an increased risk of non-Hodgkin's lymphoma, lung, liver, vulvar/vaginal, and thyroid malignancies, whereas demonstrating a decreased risk of breast and prostate cancer...
September 2015: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/26049780/quantification-of-fibrinolysis-using-velocity-curves-measured-with-thromboelastometry-in-children-with-congenital-heart-disease
#19
David Faraoni, Philippe Van der Linden, Anne-Sophie Ducloy-Bouthors, Susan M Goobie, James A DiNardo, Vance G Nielsen
BACKGROUND: In this pilot study, we hypothesized that velocity parameters obtained from changes in clot amplitude (A) and clot elasticity (E) measured with thromboelastometry (ROTEM, Tem International GmbH, Munich, Germany) could improve detection of fibrinolysis in whole blood obtained from children undergoing surgery for congenital heart disease. METHODS: Whole blood samples were obtained after induction of general anesthesia. Seven conditions were studied: native whole blood (baseline) and samples with progressive tissue-type plasminogen activator (t-PA) concentrations (102, 255, 512, 1024, 1535, and 2539 units/mL)...
August 2015: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/25946043/deletion-of-15q11-2-bp1-bp2-region-further-evidence-for-lack-of-phenotypic-specificity-in-a-pediatric-population
#20
Bita Hashemi, Anne Bassett, David Chitayat, Karen Chong, Mark Feldman, Janine Flanagan, Sharan Goobie, Anne Kawamura, Chelsea Lowther, Chitra Prasad, Victoria Siu, Joyce So, Sharon Tung, Marsha Speevak, Dimitri J Stavropoulos, Melissa T Carter
Microdeletion of the BP1-BP2 region at 15q11.2 is a recurrent copy number variant (CNV) frequently found in patients undergoing chromosomal microarray (CMA). Genetic counselling regarding this CNV is challenging due to the wide range of phenotypic presentation in reported patients and lack of general population-based data. As one of the most common reasons for CMA is childhood developmental delay, clinicians need to be cognizant of the inherent ascertainment bias in the literature. We performed a detailed medical record review for 55 patients with this 15q11...
September 2015: American Journal of Medical Genetics. Part A
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