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BackgroundRecent research has shown that photoplethysmography (PPG) based wearable sensors offer a promising potential for chronic disease monitoring. The aim of the present study was to assess the performance of an in-ear wearable PPG sensor in acquiring valid and reliable heart rate measurements in a clinical setting, with epileptic patients.MethodsPatients undergoing video-electroencephalography (EEG) monitoring with concomitant one-lead electrocardiographic (ECG) recordings were equipped with an in-ear sensor developed by cosinuss°.ResultsIn total, 2,048 h of recording from 97 patients with simultaneous ECG and in-ear heart rate data were included in the analysis. The comparison of the quality-filtered in-ear heart rate data with the reference ECG resulted in a bias of 0.78 bpm with a standard deviation of ±2.54 bpm; Pearson’s Correlation Coefficient PCC = 0.83; Intraclass Correlation Coefficient ICC = 0.81 and mean absolute percentage error MAPE = 2.57.ConclusionThese data confirm that the in-ear wearable PPG sensor provides accurate heart rate measurements in comparison with ECG under realistic clinical conditions, especially with a signal quality indicator. Further research is required to investigate whether this technology is helpful in identifying seizure-related cardiovascular changes.

Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation, p.Gln19*, in the BATF2 gene in the patients. The BATF2 transcription factor is predominantly expressed in macrophages and monocytes and has been reported to modulate AP-1 transcription factor-mediated pro-inflammatory responses. Transcriptome analysis showed altered base-level expression of interferon-stimulated genes in the patients’ blood, typical for type I interferonopathies. Peripheral blood mononuclear cells from all three patients demonstrated elevated responses to innate immune stimuli, which could be reproduced in CRISPR–Cas9-generated BATF2−/− human monocytic cell lines. BATF2 is, therefore, a novel disease-associated gene candidate for severe epilepsy and mental retardation related to dysregulation of immune responses, which underscores the relevance of neuroinflammation for epilepsy.

Objectives The treatment of rare tumors often necessitates the involvement of highly specialized teams, typically based in larger medical centers or university hospitals, which are often lacking in rural areas. The German TARGET (the Trans-sectoral Personalized Care Concept for Patients with Rare Cancers) project aims to improve the network between outpatient oncology practices and more centralized expert teams via telemedicine. Methods The primary work involved conceptualizing the implementation of project requirements based on feedback from various TARGET project teams, and ultimately, the method of implementation using the software CentraXX. Key requirements included the utilization of an electronic health record (EHR), incorporating appropriate access mediums such as smartphones, and utilizing user-specific certificates to ensure secure and tailored access. The implementation considered technical aspects, data protection regulations, and the need for user-friendly interfaces, particularly for older patients with cancer with limited technological proficiency. Results The results detail the successful implementation of the project requirements using CentraXX, which facilitated the implementation of an EHR, access mediums (patient app), and browser access for outpatient doctors, addressing the project's technical, security, and usability needs. Conclusion This article presents an overview of the requirements associated with the TARGET project and outlines how they were met in terms of the IT infrastructure. By focusing on the IT implementation rather than the medical trial results, this work aims to provide valuable insights and guidance for similar projects seeking to improve telemedicine networks and digital information exchange in the context of rare cancer treatment.

Objectives Academic institutions have access to comprehensive sets of real-world data. However, their potential for secondary use—for example, in medical outcomes research or health care quality management—is often limited due to data privacy concerns. External partners could help achieve this potential, yet documented frameworks for such cooperation are lacking. Therefore, this work presents a pragmatic approach for enabling academic-industrial data partnerships in a health care environment. Methods We employ a value-swapping strategy to facilitate data sharing. Using tumor documentation and molecular pathology data, we define a data-altering process as well as rules for an organizational pipeline that includes the technical anonymization process. Results The resulting dataset was fully anonymized while still retaining the critical properties of the original data to allow for external development and the training of analytical algorithms. Conclusion Value swapping is a pragmatic, yet powerful method to balance data privacy and requirements for algorithm development; therefore, it is well suited to enable academic-industrial data partnerships.

Objective: In the past years, heart rate (HR) has emerged as a highly relevant modifiable risk factor for heart failure (HF) patients. However, most of the clinical trials so far evaluated the role of HR in stable chronic HF cohorts. The aim of this multi-center, prospective observational study was to assess the association between HR and therapy with HR modulators (beta blockers, ivabradine, or a combination of ivabradine and beta blockers) at hospital discharge with patients' cardiovascular mortality and re-hospitalization at 6 months in acutely decompensated HF patients.Materials and Methods: We recruited 289 HF patients discharged alive after admission for HF decompensation from 10 centers in northern Italy over 9 months (from April 2017 to January 2018). The primary endpoint was the combination of cardiovascular mortality or re-hospitalizations for HF at 6 months.Results: At 6 months after discharge, 64 patients were readmitted (32%), and 39 patients died (16%). Multivariate analysis showed that HR at discharge ≥ 90 bpm (OR = 8.47; p = 0.016) independently predicted cardiovascular mortality, while therapy with beta blockers at discharge was found to reduce the risk of the composite endpoint. In patients receiving HR modulators the event rates for the composite endpoint, all-cause mortality, and cardiovascular mortality were lower than in patients not receiving HR modulators.Conclusions: Heart rate at discharge ≥90 bpm predicts cardiovascular mortality, while therapy with beta blockers is negatively associated with the composite endpoint of cardiovascular mortality and hospitalization at 6 months in acutely decompensated HF patients. Patients receiving a HR modulation therapy at hospital discharge showed the lowest rate of cardiovascular mortality and re-hospitalization.

Background: Belly dancer syndrome (BDS) and parkinsonian features are rarely described in association as a drug-induced movement disorder. Phenomenology shown: A 62-year-old woman with paranoid schizophrenia presented with bradykinesia, rigidity, rest, and postural tremor, as well as dyskinetic abdominal movements. Educational value: Our case highlights that drug-induced parkinsonism can be associated with other rare movement disorders, such as BDS, with subsequent greater morbidity.

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

Introduction: Our goal was to investigate whether biomarkers of cerebral damage are found in autoimmune-mediated epilepsy (AIE) and whether these can differentiate AIE from other seizure disorders.Methods: We retrospectively searched our cerebrospinal fluid (CSF) database for patients with definite AIE, hippocampal sclerosis due to other causes (HS), genetic generalized epilepsy (GGE), and psychogenic, non-epileptic seizures (PNES). We measured serum and CSF tau, neurofilament 1 (NFL), glial fibrillary acid protein (GFAP), and ubiquitin-carboxy-terminal hydrolase L1 with a single-molecule array.Results: We identified suitable samples from patients with AIE (n = 13) with different antibodies and compared them to HS (n = 13), GGE (n = 7), and PNES (n = 8). The NFL levels were significantly elevated in the serum (p = 0.0009) and CSF (p < 0.0019) of AIE patients. The AIE group was significantly older, while the disease duration was significantly shorter than in the control groups. NFL correlated significantly with age in all groups, and the NFL levels of AIE patients were hardly higher than those of healthy elderly people published elsewhere.Conclusions: Our data indicate that the elevated NFL levels in AIE patients are most likely due to the higher age in this group and not due to the underlying inflammation. Unless larger prospective studies with intra-individual, longitudinal analyses and treatment responses would contradict our findings, NFL in serum might yet become a biomarker for disease activity and differential diagnosis.

Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits CaV1.2 (CACNA1C) and CaVβ2 (CACNB2) were recently identified as risk loci for psychiatric diseases. Here, we present three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in ASD-affected families, two of them described here for the first time (G167S and F240L). All these mutations affect highly conserved regions while being absent in a sample of ethnically matched controls. We suggest the mutations to be of physiological relevance since they modulate whole-cell Ba2+ currents through calcium channels when expressed in a recombinant system (HEK-293 cells). Two mutations displayed significantly decelerated time-dependent inactivation as well as increased sensitivity of voltage-dependent inactivation. In contrast, the third mutation (F240L) showed significantly accelerated time-dependent inactivation. By altering the kinetic parameters, the mutations are reminiscent of the CACNA1C mutation causing Timothy Syndrome, a Mendelian disease presenting with ASD. In conclusion, the results of our first-time biophysical characterization of these three rare CACNB2 missense mutations identified in ASD patients support the hypothesis that calcium channel dysfunction may contribute to autism.