Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple motile cilia of the airway and are responsible for destructive airway disease. Outer dynein arms (ODAs) are essential for ciliary beat generation, and human respiratory cilia contain different ODA heavy chains (HCs): the panaxonemally distributed γ-HC DNAH5, proximally located β-HC DNAH11 (defining ODA type 1), and the distally localized β-HC DNAH9 (defining ODA type 2). Here we report loss-of-function mutations in DNAH9 in five independent families causing situs abnormalities associated with subtle respiratory ciliary dysfunction. Consistent with the observed subtle respiratory phenotype, high-speed video microscopy demonstrates distally impaired ciliary bending in DNAH9 mutant respiratory cilia. DNAH9 -deficient cilia also lack other ODA components such as DNAH5, DNAI1, and DNAI2 from the distal axonemal compartment, demonstrating an essential role of DNAH9 for distal axonemal assembly of ODAs type 2. Yeast two-hybrid and co-immunoprecipitation analyses indicate interaction of DNAH9 with the ODA components DNAH5 and DNAI2 as well as the ODA-docking complex component CCDC114. We further show that during ciliogenesis of respiratory cilia, first proximally located DNAH11 and then distally located DNAH9 is assembled in the axoneme. We propose that the β-HC paralogs DNAH9 and DNAH11 achieved specific functional roles for the distinct axonemal compartments during evolution with human DNAH9 function matching that of ancient β-HCs such as that of the unicellular Chlamydomonas reinhardtii .

These findings suggest that ferritin levels should be measured in subjects with autism as a part of routine investigation.

The response to HBV vaccine in celiac children who were compliant to GFD is not different from a healthy population. CD may be one of the immune diseases associated with a high rate of HBV vaccine nonresponse but it might not be permanent and treatment with GFD and compliance to the treatment may ameliorate the immune response to HBV vaccine in celiac children.

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The use of intraoperative TEE in surgical centers for congenital heart disease allows for a significant reduction in mortality and morbidity. Intraoperative TEE performed by experienced pediatric cardiologists is therefore an absolute necessity.

Extracorporeal life support (ECLS) provides mechanical support following cardiac surgery when respiratory and cardiac failure occurs. We retrospectively reviewed medical records of patients who needed ECLS at a new congenital heart center in Turkey. Between December 2009 and February 2012, 616 congenital heart operations were performed. A total of 13 patients (seven female) underwent ECLS. The ages of the patients ranged between 16 days and 33 years. There were two neonatal, seven infant, three pediatric, and one adult congenital cases. Medos DPII ECLS system was used in all patients. Mean duration of ECLS was 6.2 ± 5.8 days (ranged from 29 h to 24 days). While central vascular access with aorta and right atrial cannulation was used in 11 patients, neck vessels were used in the other patients. Four patients (30.7%) weaned successfully from ECLS (two infant, two pediatric cases). Three of them had ECLS intraoperatively. In all patients, two (15.4%) were discharged from the hospital. One of them had mild neurologic deficit. Bleeding from the surgical and cannulation sites was the most common complication. Thrombus was detected in pump head and changed uneventfully in three patients. Arterial pH and lactate levels at the beginning of ECLS were significantly lower in patients who were successfully weaned from ECLS than nonsurvivors (P = 0.04 and P = 0.02, respectively). ECLS can be a lifesaving modality in the perioperative period. It may be more beneficial if ECLS is used before the development of severe acidosis and high lactate levels.

The frequency of arrhythmia increases after transcatheter ASD closure, gradually decreases within the next year, and is most frequently of a benign nature. Lown's arrhythmia grading of patients occluded with either the Amplatzer septal occluder (ASO) or the Cardio-O-Fix septal occluder (CSO) were compared, and the arrhythmia frequency was higher with the latter. One day after the intervention, the P maximum (Pmax ) and the P dispersion(Pdis ) values were not increased but in fact slightly reduced in patients occluded with either ASO or CSO. An improvement in the electrical system resulting from early anatomical and mechanical healing following transcatheter ASD occlusion may explain the reduction in the Pmax and Pdis values.

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