Transcriptome analysis of the aortic coarctation area.

Background: Coarctation of the aorta (CoA) is a relatively common congenital heart defect. The underlying causes are not known, but a combination of genetic factors and abnormalities linked to embryonic development is suspected. There are only a few studies of the underlying molecular mechanisms in CoA.

Spatial QRS-T angle can indicate presence of myocardial fibrosis in pediatric and young adult patients with hypertrophic cardiomyopathy.

Background: Myocardial fibrosis, expressed as late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR), is an important risk factor for malignant cardiac events in hypertrophic cardiomyopathy (HCM). However, CMR is not easily available, expensive, also needing intravenous access and contrast.

Objective: To determine if derived vectorcardiographic spatial QRS-T angles, an aspect of advanced ECG (A-ECG), can indicate LGE to appropriately prioritize young HCM-patients for CMR.

The Cost of Waiting for a Transcatheter Aortic Valve Replacement in Medicare Beneficiaries With Severe Aortic Stenosis.

Background: Aortic stenosis (AS) is a prevalent valvular disorder necessitating timely intervention, particularly when symptomatic. Aortic valve replacement (AVR) is the recommended treatment, but delays in access to AVR are common and linked to adverse outcomes and increased health care costs. This study aims to assess the health care cost burden associated with delaying transcatheter AVR (TAVR) in Medicare Advantage beneficiaries with clinically significant AS.

Measuring hospital inpatient Procedure Access Inequality in the United States.

Geographic disparities in access to inpatient procedures are a significant issue within the US healthcare system. This study introduces the Procedure Access Inequality (PAI) index, a standardized metric to quantify these disparities while adjusting for disease prevalence. Using data from the Healthcare Cost and Utilization Project State Inpatient Databases, we analyzed inpatient procedure data from 18 states between 2016 and 2019.

Trends in Complications Among Patients Undergoing Aortic Valve Replacement in the United States.

Background: The treatment of severe aortic stenosis has evolved considerably since the introduction of transcatheter aortic valve replacement (TAVR), yet trends in complications for patients undergoing TAVR or surgical aortic valve replacement (SAVR) at a national level have yet to be evaluated.

Methods And Results: We performed a retrospective cohort study using Medicare data to evaluate temporal trends in complications among beneficiaries, aged ≥65 years, treated with elective isolated transfemoral TAVR or SAVR between 2012 and 2019. The study end point was the occurrence of a major complication (composite outcome) during index and up to 30 days after.

Economic Benefits of Surgical Aortic Valve Replacement on Patients With Symptomatic Aortic Valve Regurgitation.

Background: Aortic regurgitation is distinguished by the backflow of blood from the aorta into the left ventricle. American College of Cardiology/American Heart Association guidelines recommend surgical aortic valve replacement (SAVR) for patients with symptomatic aortic regurgitation (sAR). This study estimates the difference in mortality, health care use, and costs between patients with sAR who receive SAVR within 12 months of diagnosis versus those who do not.

Potential Cost Savings with 60-day Peripheral Nerve Stimulation Treatment in Chronic Axial Low Back Pain.

Introduction: Chronic axial low back pain (CLBP) that is not responsive to medication management or physical therapy often requires significant clinical intervention. Several interventional pain management options exist, including a 60-day peripheral nerve stimulation (PNS) treatment. This economic evaluation investigated the potential for projected cost savings associated with prioritizing 60-day PNS treatment relative to a 'standard of care' (SOC) approach (where patients do not have access to 60-day PNS).

Comparative effectiveness of non-compounded polidocanol 1% endovenous microfoam (Varithena) ablation versus endovenous thermal ablation utilizing a systematic review and network meta-analysis.

Objective: We compared the effectiveness and safety of polidocanol 1% endovenous microfoam ablation vs endovenous thermal ablation with radiofrequency or laser energy for treatment of venous insufficiency caused by lower extremity truncal vein incompetence via network meta-analysis of published comparative evidence.

Methods: We conducted a systematic literature review following best practices, including a prospective protocol. We screened studies published in English from 2000 to 2023 for randomized and nonrandomized studies reporting direct or indirect comparisons between polidocanol 1% endovenous microfoam and endovenous thermal ablation.

Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.

Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiological mechanisms. We studied this in young HCM patients. 29 HCM patients, 17 G+P--individuals, and age- and sex-matched controls were prospectively included.

Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden.

Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision-making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale-24 (GCOS-24), an internationally validated, patient-reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling.

Limited Access to Aortic Valve Procedures in Socioeconomically Disadvantaged Areas.

Background: To explore how differences in local socioeconomic deprivation impact access to aortic valve procedures and the treatment of aortic valve disease, in comparison to other open and minimally invasive surgical procedures.

Methods And Results: Procedure volume data were obtained from the Healthcare Cost and Utilization Project from 18 states from 2016 to 2019 and merged with area deprivation index data, an index of zip code-level socioeconomic distress. We estimate the relationship between local deprivation ranking and differences in volumes of aortic valve replacement, which include transcatheter aortic valve replacement (TAVR) and surgical aortic valve replacement (SAVR), versus coronary artery bypass graft surgery and laparoscopic colectomy (LC).

Two epilepsy-associated variants in KCNA2 (K 1.2) at position H310 oppositely affect channel functional expression.

Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay.

Long-term risk of reintervention after transcatheter aortic valve replacement.

Background: Transcatheter aortic valve replacement (TAVR) has surpassed surgical aortic valve replacement (SAVR) as the predominant mode of valve replacement for the treatment of severe aortic stenosis (AS). However, the long-term need for valvular reintervention after TAVR remains unknown.

Methods: Using data from the Medicare Fee for Service 100% dataset, all patients receiving TAVR between July 2011 and December 2020 were identified.

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

RNA binding motif protein X-linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene's importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvement of other hnRNP G domains in intellectual disability remain unknown.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical guidelines we studied the definition, phenotype, genotype-phenotype characteristics, and natural history of the syndrome. The number of confirmed diagnoses of PMS in different European countries was also assessed and it could be concluded that PMS is underdiagnosed.

Rapid Implementation of Telegenetic Counseling in the COVID-19 and Swedish Healthcare Context: A Feasibility Study.

This study reports the process and preliminary findings of rapid implementation of telegenetic counseling in the context of Swedish healthcare and COVID-19 pandemic, from both a patient and a provider perspective. Fourty-nine patients and 6 healthcare professionals were included in this feasibility study of telegenetic counseling in a regional Department of Clinical Genetics in Sweden. Telegenetic counseling is here defined as providing genetic counseling to patients by video ( = 30) or telephone ( = 19) appointments.

Case report: gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.

Biallelic variants in the kaptin gene were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities, and epilepsy. Only about 15 affected individuals have been described in the literature, all with primary or secondary macrocephaly.

Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.

Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide the first study of exome data from formalin-fixed paraffin-embedded samples (FFPE) paired with data from high-quality blood samples in forensic applications.

Feasibility and preliminary evaluation of internet-based compassion and cognitive-behavioral stress-management courses for health care professionals: A randomized controlled pilot trial.

Health care professionals (HCPs) are exposed to excessive demands in their work environment. In Sweden, work-related stress is one of the most common reasons for sick leaves. Finding cost-effective and easily accessible interventions for HCPs is crucial to counteract stress-related problems and reduce the number of sick leaves.

Longitudinal outcomes in cryptogenic stroke patients with and without long-term cardiac monitoring for atrial fibrillation.

Background: Guidelines recommend a confirmed diagnosis of atrial fibrillation (AF) to initiate oral anticoagulation in cryptogenic stroke (CS) patients. However, the intermittent nature of AF can make detection challenging with intermittent short-term cardiac monitoring.

Objective: The purpose of this retrospective cohort study was to examine post-CS utilization of cardiac monitoring and associated clinical outcomes.

Anxiety and Depression Following Aortic Valve Replacement.

Background The aim of this study was to identify patients vulnerable for anxiety and/or depression following aortic valve replacement (AVR) and to evaluate factors that may mitigate this risk. Methods and Results This is a retrospective cohort study conducted using a claims database; 18 990 patients (1/2013-12/2018) ≥55 years of age with 6 months of pre-AVR data were identified. Anxiety and/or depression risk was compared at 3 months, 6 months, and 1 year following transcatheter aortic valve replacement or surgical AVR (SAVR) after risk adjustment using logistic regression and Cox proportional hazards models.

The unintended consequences of Medicare's wage index adjustment on device-intensive hospital procedures.

Objectives: To study the association between Medicare's wage index adjustment and the differential use of labor-intensive surgical procedures and medical device-intensive minimally invasive clinical procedures across the United States.

Study Design: We combine a conceptual model and an empirical investigation of its predictions, applied to aortic valve replacement, to study the relationship between variation in Medicare wage index payment adjustment across hospital referral regions (HRRs) and the utilization of transcatheter aortic valve replacement (TAVR) and surgical aortic valve replacement (SAVR) in these areas.

Methods: Using detailed individual Medicare claims data for 2013-2018 and a novel geographical crosswalk to nest information on Medicare's wage index and utilization of TAVR and SAVR, we estimate a mixed effects Poisson regression model across HRRs to test our hypotheses.