Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Maternal uniparental disomy of chromosome 16 [upd(16)mat] as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism.

New approach for predictive measurement of knee cartilage defects with three-dimensional printing based on CT-arthrography: A feasibility study.

Purpose: The aim was to prove the possibility of creating an exact module of knee cartilage defects using 3D printing.

Methods: Defects were created in cadaver knees. CT-arthrography and 3-Tesla MRI were performed.

Opposing Effects of Maternal Hypo- and Hyperthyroidism on the Stability of Thalamocortical Synapses in the Visual Cortex of Adult Offspring.

Insufficient or excessive thyroid hormone (TH) levels during fetal development can cause long-term neurological and cognitive problems. Studies in animal models of perinatal hypo- and hyperthyroidism suggest that these problems may be a consequence of the formation of maladaptive circuitry in the cerebral cortex, which can persist into adulthood. Here we used mouse models of maternal hypo- and hyperthyroidism to investigate the long-term effects of altering thyroxine (T4) levels during pregnancy (corresponding to embryonic days 6.

Histopathological Differences of the Pedicle Artery in Commonly Used Free Flaps: The Influence of Age, Gender, and Side.

Purpose: The increasing use of vascularized free flaps has increased the demand for a specified flap selection. This study investigated histologic differences in the arterial wall of the pedicle for commonly used free flaps and the effect of age, gender, and anatomic side on these differences.

Materials And Methods: Light microscopic examinations of vessel walls were performed on 245 specimens of the nourishing artery of commonly used free vascularized flaps in preserved cadavers.

Autoantibodies in dilated cardiomyopathy induce vascular endothelial growth factor expression in cardiomyocytes.

Background: Autoantibodies have been identified as major predisposing factors for dilated cardiomyopathy (DCM). Patients with DCM show elevated serum levels of vascular endothelial growth factor (VEGF) whose source is unknown. Besides its well-investigated effects on angiogenesis, evidence is present that VEGF signaling is additionally involved in fibroblast proliferation and cardiomyocyte hypertrophy, hence in cardiac remodeling.

Risk and timing of biochemical recurrence in pT3aN0/Nx prostate cancer with positive surgical margin - A multicenter study.

Background And Purpose: Positive surgical margins (PSM) after radical prostatectomy have been shown to be associated with impaired outcome. In pT3pN0 patients with PSM either immediate radiotherapy or clinical and biological monitoring followed by salvage radiotherapy is recommended by the latest guidelines of the European Association of Urology.

Materials And Methods: A retrospective, multicenter study of eight urological centers was conducted on 536 prostatectomy patients with pT3aN0/NxR1 tumors and no neoadjuvant/adjuvant therapy.

Experimental subarachnoid hemorrhage in rats: comparison of two endovascular perforation techniques with respect to success rate, confounding pathologies and early hippocampal tissue lesion pattern.

Recently aside from the "classic" endovascular monofilament perforation technique to induce experimental subarachnoid hemorrhage (SAH) a modification using a tungsten wire advanced through a guide tube has been described. We aim to assess both techniques for their success rate (induction of SAH without confounding pathologies) as primary endpoint. Further, the early tissue lesion pattern as evidence for early brain injury will be analyzed as secondary endpoint.

Rheological, hemostaseological changes during immunetherapy for prevention of HELLP-syndrome in a patient with elevated phospholipid antibodies.

Objective: Patients with a history of severe obstetric complications in the presence of elevated phospholipid antibodies are at high risk for recurrent obstetric debacle. We report a successful immunologic treatment for prevention of HELLP-Syndrome in subsequent pregnancy in a patient with elevated Phospholipid antibodies, while under rheological and hemostaseological monitoring.

Methods: The patient with prior severe HELLP-Syndrome at term in the presence of reconfirmed elevated phospholipid antibodies in her first pregnancy received pooled immunoglobulins (Sandoglobulin 3 g - Novartis) intravenously for immunological treatment every three weeks in addition to low molecular weight heparin (Clexane 40 mg/d s.

Evaluation of aortic regurgitation after transcatheter aortic valve implantation: aortic root angiography in comparison to cardiac magnetic resonance.

Aims: Aortic regurgitation (AR) is common after transcatheter aortic valve implantation (TAVI). Intraprocedural assessment of AR relies on aortic root angiography. Cardiac magnetic resonance (CMR) phase-contrast mapping of the ascending aorta provides accurate AR quantification.

Argon: systematic review on neuro- and organoprotective properties of an "inert" gas.

Argon belongs to the group of noble gases, which are regarded as chemically inert. Astonishingly some of these gases exert biological properties and during the last decades more and more reports demonstrated neuroprotective and organoprotective effects. Recent studies predominately use in vivo or in vitro models for ischemic pathologies to investigate the effect of argon treatment.

Regional left ventricular function after transapical vs. transfemoral transcatheter aortic valve implantation analysed by cardiac magnetic resonance feature tracking.

Aims: This study analysed the impact of transapical (TA) vs. transfemoral (TF) access site transcatheter aortic valve implantation (TAVI) on post-procedural regional left ventricular (LV) function using cardiac magnetic resonance (CMR) feature tracking (FT).

Methods And Results: CMR was performed 3 months after TAVI on 44 consecutive patients with normal LV ejection fraction prior to TAVI.

MIF promotes B cell chemotaxis through the receptors CXCR4 and CD74 and ZAP-70 signaling.

Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine with chemokine-like functions that plays a pivotal role in the pathogenesis of inflammatory diseases by promoting leukocyte recruitment. We showed that MIF promotes the atherogenic recruitment of monocytes and T cells through its receptors CXCR2 and CXCR4. Effects of MIF on B cell recruitment have not been addressed.

Analysis of left ventricular volumes and function: a multicenter comparison of cardiac magnetic resonance imaging, cine ventriculography, and unenhanced and contrast-enhanced two-dimensional and three-dimensional echocardiography.

Background: Contrast echocardiography improves accuracy and reduces interreader variability on left ventricular (LV) functional analyses in the setting of two-dimensional (2D) echocardiography. The need for contrast imaging using three-dimensional (3D) echocardiography is less defined. The aim of this multicenter study was to define the accuracy and interreader agreement of unenhanced and contrast-enhanced 2D and 3D echocardiography for the assessment of LV volumes and ejection fraction (EF).

Closure of a paravalvular leak with real-time three-dimensional transesophageal echocardiography for accurate sizing and guiding.

Although closure of paravalvular leaks with Amplatzer occluders has been described in patients with increased perioperative risk, beneficial outcomes have not been consistently reported. Recent reports have described real-time three-dimensional transesophageal echocardiography (3D TEE) for facilitated guidance of the closure procedure. However, they did not focus on the critical issue of defect sizing.

Two-year mortality after transcatheter aortic valve implantation versus medical therapy for high-surgical risk or inoperable aortic stenosis patients.

Background And Aim Of The Study: Transcatheter aortic valve implantation (TAVI) has become a therapeutic option for the treatment of high-risk or inoperable patients with symptomatic severe aortic stenosis. The study aim was to compare the two-year mortality of high-risk or inoperable patients treated by TAVI compared to medical therapy, in a single-center setting.

Methods: A total of 135 consecutive patients (58 males, 77 females; mean age 80 +/- 6 years; logistic EuroSCORE 21 +/- 13%) who had undergone TAVI was compared to 135 patients (60 males, 75 females; mean age 79 +/- 3 years; logistic EuroSCORE 21 +/- 19%) who had undergone medical treatment before TAVI became available.

Impact of a new conduction defect after transcatheter aortic valve implantation on left ventricular function.

Objectives: This study sought to evaluate the impact of new conduction defects after transcatheter aortic valve implantation (TAVI) on the evolution of left ventricular (LV) function during 1-year follow-up.

Background: New left bundle branch block (LBBB) or need for permanent pacing due to atrioventricular (AV) block are frequent after TAVI.

Methods: A total of 90 consecutive patients treated with TAVI and who had 12-month echocardiographic follow-up were included in the study.

Transcatheter aortic valve-in-valve implantation of a CoreValve in a degenerated stenotic Sapien heart valve prosthesis.

Treatment options for re-stenotic aortic valve prosthesis implanted by transcatheter technique have not been evaluated systematically. We describe the case of a 75-year-old dialysis patient who was treated by transcatheter aortic valve implantation 3.5 years ago and now presented with severe stenosis of the percutaneous heart valve.

Thirty-day outcome after transcatheter aortic valve implantation compared with surgical valve replacement in patients with high-risk aortic stenosis: a matched comparison.

Background: Transcatheter aortic valve implantation (TAVI) has become a therapeutic alternative to surgery for the treatment of severe aortic stenosis in high-surgical risk patients. The aim of this study was to compare 30-day mortality of high-risk patients treated by TAVI versus surgical aortic valve replacement.

Methods: A total of 175 patients (60 men; mean age, 80±6 years; Euroscore 21±13%) having undergone TAVI were compared with 175 matched patients (76 men; mean age, 79±3 years; Euroscore 17±9%), which have undergone conventional aortic valve replacement and were deemed to be high-risk patients by the cardiothoracic surgeons.

Rate and irregularity of electrical activation during atrial fibrillation affect myocardial NGF expression via different signalling routes.

An irregular ventricular response during atrial fibrillation (AF) has been shown to mediate an increase in sympathetic nerve activity in human subjects. The molecular mechanisms remain unclear. This study aimed to investigate the impact of rate and irregularity on nerve growth factor (NGF) expression in cardiomyocytes, since NGF is known to be the main contributor to cardiac sympathetic innervation density.

Mechanical stretch of sympathetic neurons induces VEGF expression via a NGF and CNTF signaling pathway.

Mechanical stretch has been shown to increase vascular endothelial growth factor (VEGF) expression in cultured myocytes. Sympathetic neurons (SN) also possess the ability to express and secrete VEGF, which is mediated by the NGF/TrkA signaling pathway. Recently, we demonstrated that SN respond to stretch with an upregulation of nerve growth factor (NGF) and ciliary neurotrophic factor (CNTF).

The frequency of vascular complications associated with the use of vascular closure devices varies by indication for cardiac catheterization.

Objective: This study aimed at exploring access site-related vascular complication rates associated with the use of the vascular closure device (VCD) Angio-Seal™ in an unselected patient population undergoing elective as well as emergency coronary angiography or intervention.

Background: The VCD Angio-Seal™ is widely used to achieve hemostasis after diagnostic and interventional cardiac procedures. There are only little data on the frequency of vascular complications after the use of the VCD Angio-Seal™ in patients in non-elective settings.

Incidence and predictors of left bundle branch block after transcatheter aortic valve implantation.

Objective: The aim of this study was to evaluate the frequency and predictors of left bundle branch block (LBBB) after Transcatheter Aortic Valve Implantation (TAVI) using CoreValve and Edwards SAPIEN prosthesis.

Methods: 154 consecutive patients (53 male, mean age 81 ± 7 years) with severe symptomatic aortic stenosis underwent TAVI. Transfemoral AVI (CoreValve) was performed in 72 patients (47%).

Optimized guidance of percutaneous edge-to edge repair of the mitral valve using real-time 3-D transesophageal echocardiography.

Background: Percutaneous edge-to-edge repair with the MitraClip device has been shown to allow effective treatment of mitral regurgitation. It is mainly guided by transesophageal echocardiography while fluoroscopic guidance is of less importance. The impact of real-time three-dimensional transesophageal echocardiography (RT 3-D TEE) for guidance of this complex interventional procedure has not been evaluated.