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https://www.readbyqxmd.com/read/29178053/autosomal-recessive-agammaglobulinemia-due-to-a-homozygous-mutation-in-pik3r1
#1
Paoyun Tang, Julia E M Upton, Michelle A Barton-Forbes, Marina I Salvadori, Meghan P Clynick, April K Price, Sharan L Goobie
The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells...
November 25, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29120963/high-dose-versus-low-dose-tranexamic-acid-to-reduce-transfusion-requirements-in-pediatric-scoliosis-surgery
#2
Daniel J Johnson, Christine C Johnson, Susan M Goobie, Nina Nami, Joshua A Wetzler, Paul D Sponseller, Steven M Frank
BACKGROUND: Our objective was to quantify blood loss and transfusion requirements for high-dose and low-dose tranexamic acid (TXA) dosing regimens in pediatric patients undergoing spinal fusion for correction of idiopathic scoliosis. Previous investigators have established the efficacy of TXA in pediatric scoliosis surgery; however, the dosing regimens vary widely and the optimal dose has not been established. METHODS: We retrospectively analyzed electronic medical records for 116 patients who underwent spinal fusion surgery for idiopathic scoliosis by a single surgeon and were treated with TXA...
December 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29103924/ceftaroline-pharmacokinetics-and-pharmacodynamics-in-patients-with-cystic-fibrosis
#3
Emily E Barsky, Luis M Pereira, Keri J Sullivan, Alanna Wong, Alexander J McAdam, Gregory S Sawicki, Gregory P Priebe, Susan M Goobie
BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is a prevalent pathogen in patients with cystic fibrosis (CF) associated with increased morbidity. Ceftaroline fosamil is an intravenous (IV) cephalosporin with activity against MRSA. There are minimal data regarding dosing in the CF population. The objective of this study was to determine the pharmacokinetic and pharmacodynamic profile of IV ceftaroline in patients with CF. METHODS: We conducted a single-center prospective study of children and young adults with CF receiving ceftaroline (15mg/kg IV up to 600mg every 8h) as part of treatment for a CF pulmonary exacerbation between June 2016 and April 2017...
November 2, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28991109/patient-blood-management-in-pediatric-cardiac-surgery-a-review
#4
Jill M Cholette, David Faraoni, Susan M Goobie, Victor Ferraris, Nabil Hassan
Efforts to reduce blood product transfusions and adopt blood conservation strategies for infants and children undergoing cardiac surgical procedures are ongoing. Children typically receive red blood cell and coagulant blood products perioperatively for many reasons, including developmental alterations of their hemostatic system, and hemodilution and hypothermia with cardiopulmonary bypass that incites inflammation and coagulopathy and requires systemic anticoagulation. The complexity of their surgical procedures, complex cardiopulmonary interactions, and risk for inadequate oxygen delivery and postoperative bleeding further contribute to blood product utilization in this vulnerable population...
October 5, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28822975/choosing-wisely-canada-the-canadian-college-of-medical-geneticists-ccmg-list-of-five-items-physicians-and-patients-should-question
#5
EDITORIAL
Elaine Goh, Andrea Guerin, Joanna Lazier, Sharan Goobie, Tanya N Nelson, Ron Agatep, Victoria Mok Siu, Karen Y Niederhoffer, Julie Richer
No abstract text is available yet for this article.
August 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28696996/tranexamic-acid-what-is-known-and-unknown-and-where-do-we-go-from-here
#6
Susan M Goobie, Steven M Frank
No abstract text is available yet for this article.
July 11, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28557286/incidence-and-predictors-of-massive-bleeding-in-children-undergoing-liver-transplantation-a-single-center-retrospective-analysis
#7
Benjamin Kloesel, Pete G Kovatsis, David Faraoni, Vanessa Young, Heung Bae Kim, Khashayar Vakili, Susan M Goobie
BACKGROUND: Liver transplantation represents a major surgery involving a highly vascular organ. Reports defining the scope of bleeding in pediatric liver transplants are few. AIMS: We conducted a retrospective analysis of liver transplants performed at our pediatric tertiary care center to quantify blood loss, blood product utilization, and to determine predictors for massive intraoperative bleeding. METHODS: Pediatric patients who underwent isolated liver transplantation at Boston Children's Hospital between 2011 and 2016 were included...
July 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28211198/safety-of-antifibrinolytics-in-cranial-vault-reconstructive-surgery-a-report-from-the-pediatric-craniofacial-collaborative-group
#8
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
#9
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
#10
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
#11
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
#12
MULTICENTER STUDY
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
January 2017: 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
#19
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
#20
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
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