Catatonia and Maintenance Electroconvulsive Therapy in a 15-Year-Old Patient With MED13L Haploinsufficiency Syndrome in the Context of Epilepsy Diathesis.

ABSTRACT: This is the first report of pediatric catatonia syndrome in MED13L haploinsufficiency syndrome. This report describes unique challenges in diagnosis and management of catatonia in rare genetic conditions. The case also illustrates the use of electroconvulsive therapy in patients with epilepsy, epileptic encephalopathy, or other epileptic diathesis and the clinical conundrum in determining the course of maintenance electroconvulsive therapy.

Structural proteomics of a bacterial mega membrane protein complex: FtsH-HflK-HflC.

Recent advances in mass spectrometry (MS) yielding sensitive and accurate measurements along with developments in software tools have enabled the characterization of complex systems routinely. Thus, structural proteomics and cross-linking mass spectrometry (XL-MS) have become a useful method for structural modeling of protein complexes. Here, we utilized commonly used XL-MS software tools to elucidate the protein interactions within a membrane protein complex containing FtsH, HflK, and HflC, over-expressed in E. coli. The MS data were processed using MaxLynx, MeroX, MS Annika, xiSEARCH, and XlinkX software tools. The number of identified inter- and intra-protein cross-links varied among software. Each interaction was manually checked using the raw MS and MS/MS data and distance restraints to verify inter- and intra-protein cross-links. A total of 37 inter-protein and 148 intra-protein cross-links were determined in the FtsH-HflK-HflC complex. The 59 of them were new interactions on the lacking region of recently published structures. These newly identified interactions, when combined with molecular docking and structural modeling, present opportunities for further investigation. The results provide valuable information regarding the complex structure and function to decipher the intricate molecular mechanisms underlying the FtsH-HflK-HflC complex.

Clearing up the smoke: Physical and mental health considerations regarding cannabis use in adolescents with cystic fibrosis.

The cannabis plant is the most used federally illegal drug in the United States and is widely used by adolescents. Cannabis has complex effects on the body and mind. All health professionals who take care of adolescents with cystic fibrosis (CF) should be aware of the factors impacting cannabis use in CF. Given limited evidence regarding the benefits of cannabis and the significant risks, clinicians have the responsibility to identify risk of cannabis use early, counsel patients about the risks, provide a safe space for ongoing conversations about cannabis use in the context of CF care, and deliver evidence-based interventions.

Percutaneous left atrial appendage closure reduces cost of care independent of the institutional cumulative caseload in patients with non-valvular atrial fibrillation.

BACKGROUND: Data on the impact of the cumulative percutaneous left atrial appendage closure (LAAC) caseload on cardiovascular outpatient and hospitalisation costs are limited. METHODS: The present single-institution analysis includes patients treated consecutively from the beginning of our LAAC experience in January 2012 until December 2016. Pre- and post-LAAC costs for hospitalisation and ambulatory visits were included. RESULTS: A total of 676 patients underwent percutaneous LAAC (using the Watchman device): 49 (2012), 78 (2013), 211 (2014), 210 (2015), and 129 (2016). LAAC procedural costs were stable over the years (overall median €9639; 2012: €9630; 2013: €10,003; 2014: €9841; 2015: €9394; 2016: €9530; p = 0.8) and there was no correlation between cumulative caseload and procedural costs (p = 0.9). Although annualised cardiovascular management costs after LAAC were lower than before LAAC (median difference between pre-LAAC and post-LAAC yearly costs: €727; 2012: €235; 2013: €1187; 2014: €716; 2015: €527; 2016: €1052; p = 0.5 among years analysed) from the beginning of the cumulative procedural experience, a significant reduction in costs was observed only from 2014 onwards. Institutional cumulative LAAC caseload and year of procedure were not related to the amount of reduction in the costs for cardiovascular care. CONCLUSION: LAAC led to cost-of-care savings from the beginning of our institutional procedural experience.

Window to His World: Using a Patient's YouTube Channel to Help Diagnose Chronic Mania.

Although chronic mania has been investigated, with several case reports and systematic retrospective cohort studies in the literature, it not a widely recognized entity. No specific definition for chronic mania is provided in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Furthermore, it is challenging to identify patients with chronic mania unless they come to the attention of the legal or medical system. We present the case of a manic patient who was hospitalized and subsequently found to have a YouTube channel that he had been using to promote his self-invented religion for over 2 years. Consent was obtained from the patient to review this YouTube channel for collateral information. From these videos, the patient was seen to be chronically circumstantial in his thought processes, grandiose in his ideas, highly energetic, distractible, preoccupied with religion, and talking with elaborate and rapid speech. A significant improvement in his symptoms was observed after administration of oral risperidone, with his scores on the Young Mania Rating Scale and Brief Psychiatric Rating Scale also showing improvement. To our knowledge, this is the first case in the literature in which an online video-sharing service was used longitudinally to facilitate diagnosis of a mental illness. We suggest that technology has great potential to improve our diagnostic tools, especially for disorders such as chronic mania the diagnosis of which relies primarily on self-report and collateral information.

Deactivation of cardiovascular implantable electronic devices in patients nearing end of life : Reality or only recommendation?

BACKGROUND: Current guidelines recommend considering deactivation of cardiac implantable electronic devices (CIEDs) in patients nearing death. We evaluated the implementation of this recommendation in unselected deceased individuals with CIEDs. METHODS: Over a 7-month period in 2016, all deceased persons taken to the Rostock crematorium were prospectively screened for CIEDs and these were interrogated in situ. Pacing rate, pacing mode, and lead output were documented as well as patient data including location and time of death. In implantable cardioverter-defibrillators (ICDs), tachycardia therapy adjustment and occurrence of shocks 24 h prior to death were also recorded. RESULTS: We examined 2297 subjects, of whom 154 (6.7%) had CIEDs. Of these subjects, 125 (100%) pacemakers (PMs) and 27 (96.4%) ICDs were eligible for analysis. Death in persons with ICDs occurred most frequently in hospital (55.6%), while this was less frequently the case for individuals with PMs (43.2%). Furthermore, 33.3% of subjects with ICDs and 18.5% with PMs died in palliative care units (PCU). Shock therapies were switched off in three (60%) individuals with ICDs who died in the PCU, whereas antibradycardia therapy was not withdrawn in any PM patient in the PCU. Therapy withdrawal occurred in two patients with PMs (1.3%) who died in hospital. Patients with PMs had high ventricular pacing rates at the last interrogation (69 ± 36.0%) and often suffered atrioventricular block (39.2%). Six (25%) of the 24 active ICDs presented shocks near the time of death. CONCLUSION: Many CIED patients died in hospital; nonetheless, in practice, CIED deactivation near death is rarely performed and might be less feasible in subjects with PMs. However, there is still a need to consider deactivation, especially in individuals with ICDs, as one fourth of them received at least one shock within 24 h prior to death.

Individual programming of current multiprogrammable pacemakers : Still unsatisfactory?

BACKGROUND: Pacemaker (PM) technology has developed tremendously in recent decades. We evaluated the extent of individual programming in current PMs. METHODS: Over a 7-month period in 2016, all deceased persons taken to the Rostock crematorium were prospectively screened for cardiac implantable electronic devices (CIEDs) and these were interrogated in situ. Programming of patient data, leads, and study parameters including mode, lower rate, upper tracking or sensor rate (UTSR), ventricular refractory time, sleeping function, hysteresis, and PM-mediated tachycardia intervention were analyzed and compared with delivery settings. Alterations in atrial/ventricular capture management and atrial/ventricular sensing assurance as well as changes in sensitivity and lead output were evaluated. RESULTS: We examined 2297 subjects, of whom 154 (6.7%) had CIEDs, with 125 (81.2%) being PMs. Finally, 72 (57.6%) PMs were eligible for analysis with an operation time of 31.0 ± 27.0 months. We excluded 28 (18.2%) implantable cardioverter defibrillators (ICDs), 51 (41%) PMs presenting elective replacement indicator (ERI), two (1.6%) PMs with programming to insufficient function prior to death, and the left ventricle parameter of one (1.4%) cardiac resynchronization therapy pacemaker (CRT-P); further one CIED (0.6%) was not contactable. PMs offered in mean 75.2% of study parameters thereof 88.0% were to adjust manually, whereof 49.3% stayed unchanged to delivery mode. Lead output, UTSR, lower rate, and mode were the most frequently changed parameters (>85.7%, 65.3%, 54.2%, and 52.8%, respectively) compared with unmodified ventricular refractory time and hysteresis (91.7% and. 85.4%, respectively); 2.8% of PMs had out-of-the-box settings. The most frequent personalized data were last (88.9%) and first name (73.6%), while atrial and ventricular serial lead numbers were rarely entered (18.2% and 23.4%, respectively). CONCLUSION: The programming possibilities of PMs have advanced greatly. Nonetheless, improvements in individual PM programming are still needed as demonstrated by the findings in this study, e.g., PMs with manufacturer settings and lack of individual data.

Transcatheter aortic valve replacement with the 34 mm Medtronic Evolut valve : Early results of single institution experience.

OBJECTIVES: To report our experience with the recently introduced 34 mm Evolut transcatheter aortic valve replacement (TAVR) prosthesis. BACKGROUND: A larger TAVR prosthesis has become available for the treatment of aortic stenosis (AVS) in larger native aortic annuli (up to 30 mm). Outcomes with this new device are still unreported. RESULTS: The first 25 transfemoral TAVRs performed by our team with the self-expandable 34 mm Evolut are presented. The majority of patients were male (84%) with a mean age of 81.3 ± 5.6 years, a median logistic euro-SCORE of 14.7 (5.4-61.0), and a computed tomography measured mean perimeter-derived aortic annulus diameter of 27.1 ± 1.4 mm (min. 25.0-max. 31.2 mm). We implanted one 34 mm Evolut in all patients. Median operative time and radiation time were 68.5 and 12.4 min respectively. To optimise final valve position and haemodynamic performance, at least one complete re-sheathing and re-positioning of the same valve was reported in 33.2%. New permanent pacemaker implantation (PPMI) was necessary in 28.5%. At Receiver Operating Characteristic (ROC) analysis, a minimal diameter of the left ventricular outflow tract <21.9 mm was a significant predictor for PPMI (specificity 82%; sensitivity 83%; p = 0.005; Area Under the Curve (AUC) = 0.9). Length of stay in hospital was 9.2 ± 5.8 days and no in-hospital death was reported. At discharge, grade 1 + para-valvular regurgitation was present in 32%, and no regurgitation in the remaining patients. Device success and early safety were 100% and 92% respectively. CONCLUSIONS: TAVR with the 34 mm Evolut prosthesis has shown satisfactory acute outcomes. Although results are consistent with those observed with smaller Evolut prostheses, a trend for a higher PPMI rate has been noticed and could derive from a higher oversizing rate.

Mitro-aortic pathology: a point of view for a fully transcatheter staged approach.

Severe aortic valve stenosis (AVS) and mitral valve regurgitation (MVR) often coexist. Although a fully percutaneous treatment for the two conditions, by means of transcatheter aortic valve implantation (TAVI) followed by MitraClip, can be appealing in selected high-risk candidates, critical and strategical reasoning should be applied. In a 3-year period we have developed a single-centre experience of 14 patients who were managed with a staged percutaneous approach to treat severe AVS and MVR. The average interval from TAVI to MitraClip repair was 101 ± 12 days. Success for TAVI was 100% and 92.9% (13/14) for MitraClip. At late follow-up, 3 patients developed MVR 3+. Estimated 1­year survival was 66.5%. Freedom from 1­year endpoint (death, stroke, major bleeding, myocardial infarction, and cardiac re-hospitalisation) was 57.9%.In our view, a fully transcatheter approach for mitro-aortic pathology is feasible and should be performed only as a staged procedure in those patients that remain symptomatic, in spite of successful TAVI. It should be emphasised that although the periprocedural success rate is satisfactory, follow-up mortality and re-hospitalisation rates remain high, even at mid-term follow-up. This most probably results from the advanced clinical picture at time of referral for treatment.

[Low-flow low-gradient aortic valve stenosis : Current evidence]. / "Low-flow-low-gradient"-Aortenklappenstenose : Aktuelle Evidenz.

Many patients with severe aortic stenosis have a "low-flow, low-gradient" aortic stenosis. The management of these patients can be quite difficult, as these patients often show impairment of the left ventricle, which can lead to false measurements of the severity of stenosis and also leads to a higher risk during aortic valve replacement. More diagnostic tools than only standard echocardiography are needed to correctly differentiate true severe aortic stenosis from pseudo severe aortic stenosis.

MitraClip step by step; how to simplify the procedure.

The MitraClip system is a device for percutaneous edge-to-edge reconstruction of the mitral valve in patients with severe mitral regurgitation who are deemed at high risk for surgery. Studies have underlined the therapeutic benefit of the MitraClip system for patients at extreme and high risk for mitral valve surgery, suffering from either degenerative or functional mitral regurgitation. The MitraClip procedure shows low peri-procedural complication rates, and a significant reduction in mitral regurgitation, as well as an improvement in functional capacity and most importantly quality of life. It hereby widens the spectrum of mitral valve repair for the Heart Team. The current review underscores the efficacy of the procedure and describes the technique to simplify the procedure.

Introducing transcatheter aortic valve implantation with a new generation prosthesis: Institutional learning curve and effects on acute outcomes.

OBJECTIVES: We present our single-centre experience with the direct flow medical (DFM) trans-catheter aortic valve implantation (TAVI) prosthesis addressing the impact of learning curve upon outcomes. BACKGROUND: The DFM has been recently introduced for TAVI. The prosthesis presents original design and implantation features. METHODS: Patients were divided into three groups according to the chronological implantation sequence that reflected technical skills acquisition of the entire team. RESULTS: Group I included the first 20 patients (early learning phase), group II the second 20 patients (proctoring to other members of the team), and group III the following 93 patients (technique consolidation). Differences in baseline and procedural variables were analysed. Nonparametric correlation and linear regression were used to identify changes according to institutional cumulative experience. There was a significant correlation between catheterisation time and institutional experience (rho = -0.4; p < 0.0001) confirmed at linear regression (beta = -0.2; p = 0.001; CI: -0.3 - -0.08). Moreover, there was lower rate of valve retrieval in group III (15% vs. 20% vs. 10%; p = 0.5). No intra-procedural mortality was reported and improved early safety (at 30 days) was observed (80% vs. 85% vs. 87.1; p = 0.7). At hospital discharge, valve haemodynamic performance was satisfactory with only mild regurgitation in 10% (I), 20% (II), and 9.7% (III) (p = 0.8). CONCLUSIONS: DFM adequate sizing and implantation can be achieved after the early learning phases. A significant reduction in catheterisation time is reported after the first 20 patients. Results remain satisfactory during the proctoring and technical consolidation phase.

A Rare Clinical Course of Seronegative Pulmonary-Renal Syndrome.

Purpose. Pulmonary-renal syndrome (PRS) is characterized by diffuse alveolar hemorrhage and rapidly progressive glomerulonephritis mainly due to autoimmune etiologies. Seronegative PRS is a challenging entity to the clinician, since early diagnosis may be missed leading to delayed appropriate treatment. Materials and Methods. We present the clinical course of a 77-year-old patient who was admitted under the suspected diagnosis of pneumogenic sepsis and septic renal failure with fever, dyspnea, and elevated CRP levels. The diagnosis of pulmonary-renal syndrome was initially missed because of the absence of autoantibodies in all serological findings. Results. Despite delayed initiation of immunosuppressive therapy and a prolonged period of dialysis and extracorporeal membrane oxygenation the patient recovered well and was released to a rehabilitation center with nearly normalized creatinine levels. The diagnosis of PRS was established by renal biopsy. Conclusion. This case illustrates the important differential diagnosis of seronegative pulmonary-renal syndrome in patients with pulmonary and renal impairment.

[Interdisciplinary differential treatment of structural heart disease : When operation and when catheter-based intervention?]. / Interdisziplinäre Differenzialtherapie struktureller Herzerkrankungen : Wann Operation und wann kathetergestützte Intervention?

The demographic changes in society lead to an increasing number of patients with aortic valve stenosis and mitral regurgitation. Simultaneously the higher age of patients is associated with an increase in multimorbidity with a high surgical risk so that they cannot be referred to surgery. Besides the current gold standard of surgery, minimally invasive therapeutic options are increasingly becoming established for these patients. For the differentiated indications and therapeutic success, a multidisciplinary heart team assumes an important role. The next generation of transcatheter aortic valve implantation (TAVI) systems will lead to improvement in the results, lower complication rates and mortality and as a result there is a general trend towards expanding the indications. New innovative minimally invasive mitral valve devices are still undergoing clinical trials and will define future therapy options.