Search

A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed. [ABSTRACT FROM PUBLISHER]

The article discusses the use of new extracorporeal membrane oxygenation (ECMO) surgical cannulation simulators to enhance proficiency of the surgical procedure.

Objectives: Anticoagulation with unfractionated heparin remains the most common therapy used to prevent circuit thrombosis during extracorporeal membrane oxygenation, but no consensus exists on the optimal method or targets for heparin monitoring. From 2015 to 2018, we switched from monitoring heparin during extracorporeal membrane oxygenation using activated clotting times to anti-Xa heparin activity assays. This study describes the transition from activated clotting time to anti-Xa heparin activity assay monitoring and the associated clinical changes.Design: Retrospective analysis at single institution.Setting: Referral Children's Hospital.Patients: A total of 145 pediatric patients over 152 extracorporeal membrane oxygenation runs using 206 extracorporeal membrane oxygenation circuits.Interventions: Anticoagulation protocol quality improvement.Measurements and Main Results: From 2015 to 2018, heparin monitoring during extracorporeal membrane oxygenation changed from hourly activated clotting time to anti-Xa heparin activity assay every 6 hours with an associated 75% reduction in the circuit changes per extracorporeal membrane oxygenation day. Over the 4 years, patients with an average anti-Xa heparin activity assay of at least 0.25 U/mL showed a 59% reduction in circuit changes per extracorporeal membrane oxygenation day compared with less than 0.15 U/mL. In addition to its association with reduced circuit changes, anti-Xa heparin activity assay monitoring was also associated with reduced heparin dose changes per day from 11 ± 4 to 2 ± 1 (p < 0.001), smaller heparin dose changes (less variation in dose), and reduced diagnostic phlebotomy volumes from 41 ± 6 to 25 ± 11 mL/day (p < 0.001). The number of patients with reported bleeding decreased from 69% using activated clotting time to 51% (p = 0.03). Transfusion rates did not change.Conclusions: Over 4 years, we replaced the activated clotting time assay with the anti-Xa heparin activity assay for heparin monitoring during extracorporeal membrane oxygenation. Minimum anti-Xa heparin activity assay levels of 0.25 U/mL were associated with reduced circuit changes. Further studies are needed to determine the optimum anti-Xa heparin activity assay therapeutic range during extracorporeal membrane oxygenation. [ABSTRACT FROM AUTHOR]

Linked Comment: Ultrasound Obstet Gynecol 2015; 45: 394–401 [ABSTRACT FROM AUTHOR]

In critically ill patients, direct knowledge of intracellular pO2 would allow for identification of cellular hypoxia, which when prolonged leads to organ failure. We have developed a visible–near-infrared optical system that noninvasively measures myoglobin saturation, which is directly related to intracellular pO2, from the surface of the skin. We used an animal model of graded hypoxia from low levels of inspired oxygen (n = 5) and verified that low intracellular pO2 is correlated with high steady-state serum lactate values. In addition, the pO2 gradient between arterial blood and inside muscle cells was 83 mm Hg at 21% O2, but fell to 24 mm Hg at 8% O2. Continuous myoglobin saturation measurement in skeletal muscle displayed the same trends as cerebral oxygenation with no lag in changes over time, demonstrating its relevance as a measure of systemic oxygenation. [ABSTRACT FROM AUTHOR]

Decannulation from veno-arterial extracorporeal life support may involve ligation or repair of the carotid artery; however, differences in outcomes are not clear. This study aimed to describe short- and long-term artery patency and neurodevelopmental outcomes in neonatal and pediatric patients who underwent carotid artery repair (CAR) versus ligation at decannulation. Patients supported on veno-arterial extracorporeal life support during the first 15 mo of life from 2010 to 2020 at a large, tertiary care children's hospital were included. Decannulation strategy, postdecannulation imaging, and follow-up visits were reviewed. 74 patients were identified with median age at cannulation 2 d (interquartile range [IQR] = 1-21 d) and median weight 3.7 kg (interquartile range= 3.2-4.4 kg). Indications included congenital cardiac conditions (27%), congenital diaphragmatic hernia (19%), pulmonary hypertension (19%), meconium aspiration (16%), and pneumonia/sepsis (14%). Forty-two patients (57%) underwent CAR. Patients on extracorporeal life support >5 d were 95% less likely to undergo CAR (P < 0.001). Of CAR patients, 18 (43%) had doppler ultrasound performed within the 2-y follow-up period. Ten of 18 patients (55.6%) had >50% stenosis (3) or complete occlusion (7). Only 36% (27/74) had formal neurodevelopmental follow-up within 6 mo and 41% (30/74) within 2 y; however, no significant differences in function were seen between groups. Neonates and young toddler patients undergoing CAR following extracorporeal life support decannulation are at risk for partial or complete artery occlusion. In our study population, repair and ligation at decannulation appear to have similar neurodevelopmental outcomes; however, follow-up to assess function is not standardized. Longer term follow-up and risk stratification are needed to guide decannulation strategy. [ABSTRACT FROM AUTHOR]

Objectives: To update previously described trends for neonates with congenital diaphragmatic hernia (CDH) receiving ECMO with changes in recommendations for care, and to determine how recent advancements in respiratory care have affected this patient population.Study Design: This study is a retrospective review of more than 2500 neonates with CDH who received ECMO listed in the Extracorporeal Life Support Organization (ELSO) registry. Cochran-Armitage and multivariate regression analyses were used to analyze changes in the patient population over time and in mortality-related risk factors.Results: Almost one-half (48.1%) of the term neonates survived to discharge, representing a 13.8% decline in survival over the past 25 years (P < .0001). Over the past 10 years, the prevalence of respiratory acidosis more than doubled (P < .0001) and the prevalence of major complications increased (P < .001). During the same period, the number of ECMO courses longer than 1 week increased (P < .001), whereas the prevalence of multiple complications (>4) decreased (P < .0001). Surgeries performed on ECMO were associated with worse outcomes than those performed off ECMO. ECMO duration no longer represents a mortality-related risk factor.Conclusions: Survival rates for neonates with CDH receiving ECMO have continued to drop in the modern era. Although the safety of ECMO has improved over the last decade, the number of patients experiencing significant respiratory acidosis has more than doubled-increasing the risk of intracranial hemorrhage and overall mortality. The evidence for permissive hypercapnia remains mixed; nonetheless, we believe that the risks outweigh the rewards in this patient population. [ABSTRACT FROM AUTHOR]

Presents an abstract of the article "Acquired Isodisomy for Chromosome 13 Is Common and Associated With FLT3-itd Mutations in AML," by Mike Griffiths, J. Mason, D. McMullan, S. Akiki, M. Rindl, H. Powell, A. Curtis, and N. Brown.

Presents an abstract of the article "Translocation t(9;11) in the Absence of Overt Leukaemia," by Nicola Geddes, D. McMullan, C. Almond, and A. Ely, E. Edwards, M. J. Griffiths, and E. V. Davison.

Background: Infants listed for heart transplant are at high risk for waitlist mortality. While waitlist mortality for children has decreased in the current era of increased ventricular assist device use, outcomes for small infants supported by ventricular assist device remain suboptimal. We evaluated morbidity and survival in critically ill infants listed for heart transplant and managed without ventricular assist device support. Methods: Critically ill infants (requiring ≥1 inotrope and mechanical ventilation or ≥2 inotropes without mechanical ventilation) listed between 2008 and 2019 were included. During the study period, infants were managed primarily medically. Mechanical circulatory support, specifically extracorporeal membrane oxygenation, was utilized as "rescue therapy" for decompensating patients. Results: Thirty‐two infants were listed 1A, 66% with congenital heart disease. Median age and weight at listing were 2.2 months and 4.4 kg, with 69% weighing <5 kg. At listing, 97% were mechanically ventilated, 41% on ≥2 inotropes, and 25% under neuromuscular blockade. Five patients were supported by ECMO after listing. A favorable outcome (transplant or recovery) was observed in 84%. One‐year posttransplant survival was 92%. Infection was the most common waitlist complication occurring in 75%. Stroke was rare, occurring in one patient who was supported on ECMO. Renal function improved from listing to transplant, death, or recovery (eGFR 70 vs 87 ml/min/1.73m2, p =.001). Conclusion: A strategy incorporating a high threshold for mechanical circulatory support and acceptance of prolonged mechanical ventilation and neuromuscular blockade can achieve good survival and morbidity outcomes for critically ill infants listed for heart transplant. [ABSTRACT FROM AUTHOR]