Young adults with ESRD since childhood have systemic CVD characterized by a decrease in arterial elasticity, the occurrence of CAC and changes in left ventricular morphology. Treatment with calcium-containing phosphate binders and active vitamin D preparations is independently associated in a dose-dependent manner with surrogate markers for CVD.

After comparing all the clinical parameters evaluated, no significant difference between the stabilization of full dentures via conus and telescopic crowns and bar-anchored dentures could be found. The choice of one particular method remains the decision of the professional treating the patient.

BackgroundLong-QT syndrome (LQTS) causes a prolongation of the QT-interval in the ECG leading to life threatening tachyarrhythmia and ventricular fibrillation. One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormalities as well as distinct cranio-facial abnormalities.Case presentationOn a family with both children diagnosed with clinical LQTS, we performed whole exome sequencing to comprehensively screen for causative mutations after a targeted candidate gene panel screen for Long-QT syndrome target genes failed to identify any underlying genetic defect. Using exome sequencing, we identified in both affected children, a p.402G > S mutation in exon 8 of the CACNA1C gene, a voltage-dependent Ca2+ channel. The mutation was inherited from their father, a mosaic mutation carrier. Based on this molecular finding and further more careful clinical examination, we refined the diagnosis to be Timothy syndrome (TS2) and thereby were able to present new therapeutic approaches.ConclusionsOur study highlights the difficulties in accurate diagnosis of patients with rare diseases, especially those with atypical clinical manifestation. Such challenge could be addressed with the help of comprehensive and unbiased mutation screening, such as exome sequencing.

Symptoms that may be caused by arrhythmia are common in pediatric outpatient departments, though it remains challenging to reveal paroxysmal tachycardia. This investigation evaluated prospectively the quality and diagnostic yield of a newly available handheld patient-activated event recorder (ER) in children. In 226 children (pts) aged 0-17 years with or without congenital heart defects, pacemaker/ICDs or arrhythmia, a lead-I ER ECG was created. ER ECGs were recorded by pressing the patients' thumbs on the device and were analyzed in comparison with a lead-12 ECG, as gold standard. Event recording and data transmission were possible in all cases. ECG quality of the ER showed a high accordance in measuring heart rate (ICC = 0.962), duration of QRS complexes (κ = 0.686), and PR interval (ICC = 0.750) (p < 0.001) although P wave detection remained challenging (p = 0.120). 36 % (n = 82) of the pts had heart rhythm disturbances. The ER yielded 92 % sensitivity in diagnosing supraventricular tachycardia plus 77 % sensitivity and 92 % specificity in identifying abnormal ECGs. In children, the application of the tested ER was suitable. ECGs of good quality could be performed and transmitted easily, and also complex arrhythmia analysis was possible. This ER is an excellent diagnostic device for the detection and exclusion of tachycardia in children.

Background:Thrombocytopenia is a risk factor for patent ductus arteriosus. Immature and mature platelets exhibit distinct haemostatic properties; however, whether platelet maturity plays a role in postnatal, ductus arteriosus closure is unknown.Methods:In this observational study, counts of immature and mature platelets (=total platelet count − immature platelet count) were assessed on days 1, 3, and 7 of life in very low birth weight infants (<1500 g birth weight). We performed echocardiographic screening for haemodynamically significant patent ductus arteriosus on day 7.Results:Counts of mature platelets did not differ on day 1 in infants with (n = 24) and without (n = 45) haemodynamically significant patent ductus arteriosus, while infants with significant patent ductus arteriosus exhibited lower counts of mature platelet on postnatal days 3 and 7. Relative counts of immature platelets (fraction, in %) were higher in infants with patent ductus arteriosus on day 7 but not on days 1 and 3. Receiver operating characteristic curve analysis unraveled associations between both lower mature platelet counts and higher immature platelet fraction (percentage) values on days 3 and 7, with haemodynamically significant ductus arteriosus. Logistic regression analysis revealed that mature platelet counts, but not immature platelet fraction values, were independent predictors of haemodynamically significant patent ductus arteriosus.Conclusion:During the first week of postnatal life, lower counts of mature platelets and higher immature platelet fraction values are associated with haemodynamically significant patent ductus arteriosus. Lower counts of mature platelet were found to be independent predictors of haemodynamically significant patent ductus arteriosus.