Machine Learning Methods for Automated Quantification of Ventricular Dimensions.
Zebrafish. 2019 Sep 19;:
Authors: Schutera M, Just S, Gierten J, Mikut R, Reischl M, Pylatiuk C
Medaka (Oryzias latipes) and zebrafish (Danio rerio) contribute substantially to our understanding of the genetic and molecular etiology of human cardiovascular diseases. In this context, the quantification of important cardiac functional parameters is fundamental. We have developed a framework that segments the ventricle of a medaka hatchling from image sequences and subsequently quantifies ventricular dimensions.
PMID: 31536467 [PubMed - as supplied by publisher]
The Limited Benefit of Follow-Up Echocardiograms After Repair of Tetralogy of Fallot.
Pediatr Cardiol. 2019 Sep 18;:
Authors: Xu J, Guthrey C, Dalby S, Tang X, Daily J, Collins RT
Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease, making up 10% of all congenital heart defects. Annual follow-up echocardiograms are recommended in patients with repaired ToF, but evidence-based guidelines do not exist. We hypothesized that most echocardiograms performed in asymptomatic patients with repaired ToF and no physical exam change do not result in an actionable change (AC) in management. We retrospectively reviewed records of all patients with ToF and prior complete repair at our institution between January 2000 and September 2015. Changes in echocardiograms resulting in hospital admission, medication addition/change, cardiac catheterization, or surgical procedure were identified via chart review. These changes were referred to as an AC. A total of 1135 echocardiograms were reviewed from 233 patients (160 with initial complete repair, 70 with prior shunt, and 3 with other initial surgery). The median number of echocardiograms per patient was 5. Of the 1135 echocardiograms, 15 (1.3%) were associated with AC. Of the 15 patients with AC echocardiograms, 9 underwent a shunt prior to complete repair (9/70, 12.9%) and 6 had undergone an initial complete repair (6/160, 3.8%). The median age at AC was 6.3 years (IQR 4.4, 6.8) in the shunt group and 0.90 years (IQR 0.87, 1.1) in the initial complete repair group. In asymptomatic patients with repaired ToF and no physical exam change, echocardiograms rarely lead to a change in clinical management. In conclusion, the likelihood and timing of AC echocardiograms and reinterventions vary based on the type of initial surgery.
PMID: 31535184 [PubMed - as supplied by publisher]
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Pediatr Cardiol. 2019 Sep 18;:
Authors: Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN
Genetic testing is important to augment clinical diagnosis and inform management of inherited arrhythmias syndromes (IAS), but variants of uncertain significance (VUS) are common and remain a challenge in clinical practice. In 2015, American College of Medical Genetics (ACMG) published updated guidelines for interpretation of genetic results. Despite increasing understanding of human genomic variation, there are no guidelines for reinterpretation of prior genetic test results. Patients at a single tertiary children's hospital with genetic testing for an IAS that demonstrated a VUS were re-evaluated using 2015 ACMG guidelines, clinical information, and publically available databases. Search of the electronic medical record identified 116 patients with genetic testing results available, and 24/116 (21%) harbored a VUS for an IAS. 23 unique VUS were evaluated from 12 genes. Over half of the VUS (12/23 (52%)) were reclassified using 2015 criteria, and 8 (35%) changed to pathogenic and 4 (17%) to benign. Relative risk of reclassification of VUS to a pathogenic variant in a patient with confirmed clinical diagnosis was 4.1 (95% CI 1.23-15.4). Reclassification was not associated with initial testing year. These data demonstrate 52% of VUS in children with IAS are reclassified with application of 2015 ACMG guidelines. Strength of phenotyping is associated with eventual pathogenic classification of genetic variants and periodic re-evaluation of VUS identified on genetic testing for IAS is warranted.
PMID: 31535183 [PubMed - as supplied by publisher]
Development of a Ductal Aneurysm in a Patient with Williams Syndrome, and Subsequent Interventional Closure.
Pediatr Cardiol. 2019 Sep 18;:
Authors: van den Berg G, Helbing WA, van Beynum I, Krasemann TB
Whilst stenosis of systemic and pulmonary arteries in Williams syndrome is frequently described, aneurysm formation is uncommon. We provide the first description of a Williams patient with development of an aneurysm of the arterial duct. This aneurysm developed concomitantly with supravalvar aortic, and peripheral pulmonary stenosis. The duct was closed interventionally to reduce the risk of rupture.
PMID: 31535182 [PubMed - as supplied by publisher]
Esophageal perforation with orogastric tube malposition in low-birth-weight infant.
Clin Case Rep. 2019 Sep;7(9):1794-1795
Authors: Maeda T, Tachibana T, Harada T
Esophageal perforation is an uncommon, but serious complication which can be caused with gastric tube placement. Physicians should suspect the malposition of the gastric tube when there is a straight course of the lower segment of the tube.
PMID: 31534753 [PubMed]
The role of age-specific N-terminal pro-brain natriuretic peptide cutoff values in predicting intravenous immunoglobulin resistance in Kawasaki disease: a prospective cohort study.
Pediatr Rheumatol Online J. 2019 Sep 18;17(1):65
Authors: Shao S, Luo C, Zhou K, Hua Y, Wu M, Liu L, Liu X, Wang C
BACKGROUND: The prediction of resistance to intravenous immunoglobulins (IVIG) is currently still one of the main research areas in Kawasaki disease (KD). Several studies have reported on the use of N-terminal pro-brain natriuretic peptide (NT-ProBNP) to this end. However, considering the age-dependency of NT-ProBNP levels, age- specific NT-ProBNP cutoff levels to predict IVIG resistance in KD might be more precise and should be evaluated.
METHODS: A prospective cohort study with standardized data collection involving 393 KD patients aged 1 month to 125 months was conducted between June 2015 and April 2018. The demographic characteristics, clinical manifestations and laboratory data were compared between the patients responding to initial intravenous immunoglobulin (IVIG-response group) and those who did not (IVIG-resistance group). We further distinguished four subgroups according to patients' age (< 1 year, 1-2 years, 2-6 years, > 6 years). The cutoff values of NT-ProBNP for the prediction of IVIG resistance overall and in the subgroups were obtained using receiver operating characteristic (ROC) analysis.
RESULTS: In all KD patients, the level of NT-ProBNP was significantly higher in the IVIG-resistance compared to the IVIG-response group (P = 0.006). This findings was similar in the subgroups except for patients older than six years. The best cutoff values of NT-ProBNP to predict IVIG resistance were 3755 pg/ml for all KD patients, 3710 pg/ml, 2800 pg/ml, 2480 pg/ml for those aged 2-6 years, 1-2 years and < 1 year, respectively. The corresponding sensitivities were 44.0, 52.2, 50.0 and 75.0%, while the specifities were 84.1, 86.3, 77.9 and 71.8%, respectively.
CONCLUSIONS: NT-proBNP is a complementary laboratory marker for the prediction of IVIG resistance in KD patients, particularly for those younger than one year. Applying age-specific cutoff values is more precise than one value for all ages.
PMID: 31533770 [PubMed - in process]