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WD40-repeat (WDR)-containing proteins constitute an evolutionarily conserved large protein family with a broad range of biological functions. In human proteome, WDR makes up one of the most abundant protein-protein interaction domains. Members of the WDR protein family play important roles in nearly all major cellular signalling pathways. Mutations of WDR proteins have been associated with various human pathologies including neurological disorders, cancer, obesity, ciliopathies and endocrine disorders. This review provides an updated overview of the biological functions of WDR proteins and their mutations found in congenital disorders. We also highlight the significant role of WDR proteins in ciliopathies and endocrine disorders. The new insights may help develop therapeutic approaches targeting WDR motifs. [ABSTRACT FROM AUTHOR]

Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation < 95% was considered abnormal, and second measurement was done 2 hours later. If the second measurement remained < 95%, an echocardiogram was performed. On enrolment in the study, the following data for each neonate were recorded: gestational age, gender, birth weight, mode of delivery, and mother's age. Results: During the study period, totally 3,846 newborns were evaluated. Of the whole study population, 304(7.9%) babies had a postductal functional saturation < 95%. The second measurement was also < 95% in 104 (2.7%) neonates. The mean age of the neonates at the time of pulse oximetry was 18.91 ± 8.61 (min =4.5 and max = 49) hours. Forty-nine percent of the subjects were female and51% were male. Echocardiography was performed on 81 out of 104 newborns, and 14 (0.36%) of them had CHD. The types of CHD in our patients were tetralogy ofFallot (3 cases), transposition of the great vessels (2 cases), double-outlet right ventricle (2 cases), truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type). The best time for pulse oximetry was within 8-24 hours of the newborns' life. Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns. [ABSTRACT FROM AUTHOR]

Abstract: Background: In case reports and small series, the coexistence of a persistent left superior vena cava (LSVC) and extra-cardiac anomalies has been noted. However, an association between LSVC and extra-cardiac anomalies has not been documented. We investigated the association between LSVC and extra-cardiac anomalies in patients referred to our tertiary pediatric cardiology department between 1998 and 2005. Methods: Trans-thoracic echocardiograms were performed on 4426 consecutive patients. Cardiac and extra-cardiac anomalies were registered prospectively in a computerized database. In a retrospective observational design, characteristics of patients with LSVC were collected. Results: In 4426 patients, 1825 (41%) were diagnosed with congenital heart disease (CHD) and 295 patients (7%) with extra-cardiac anomalies. LSVC was present in 102 patients, of which 89 (87%) with CHD (OR 10.2, 95% CI 5.7 to 18.3, p <0.001) and 61 (60%) with extra-cardiac anomalies (OR 26.0, 95% CI 17.1 to 39.5, p <0.001). Confirmed syndromes were present in 43 LSVC patients (42%), including VACTERL association (vertebral defects, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, radial and renal dysplasia, and limb anomalies, 9%), trisomy 21 (7%), 22q11 (6%) and CHARGE association (coloboma, heart defects, atresia of choanae, retardation, genital and ear anomalies, 5%). In 17 LSVC patients (17%) with multiple anomalies in different organ systems, a syndrome diagnosis was not confirmed. Conclusions: The LSVC appears to be indicative for both cardiac and extra-cardiac anomalies (e.g. septal defects, tetralogy of Fallot, VACTERL and CHARGE association). Disorders in the development of the secondary heart field may be causal to this combination of anomalies. [Copyright &y& Elsevier]