When the SARS-CoV-2 pandemic reached Europe in 2020, a German governmental order forced clinics to immediately suspend elective care, causing a problem for patients with chronic illnesses such as ...epilepsy. Here, we report the experience of one clinic that converted its outpatient care from personal appointments to telemedicine services.
Documentations of telephone contacts and telemedicine consultations at the Epilepsy Center Frankfurt Rhine-Main were recorded in detail between March and May 2020 and analyzed for acceptance, feasibility, and satisfaction of the conversion from personal to telemedicine appointments from both patients' and medical professionals' perspectives.
Telephone contacts for 272 patients (mean age: 38.7 years, range: 17–79 years, 55.5% female) were analyzed. Patient-rated medical needs were either very urgent (6.6%, n = 18), urgent (23.5%, n = 64), less urgent (29.8%, n = 81), or nonurgent (39.3%, n = 107). Outpatient service cancelations resulted in a lack of understanding (9.6%, n = 26) or anger and aggression (2.9%, n = 8) in a minority of patients, while 88.6% (n = 241) reacted with understanding, or relief (3.3%, n = 9). Telemedicine consultations rather than a postponed face-to-face visit were requested by 109 patients (40.1%), and these requests were significantly associated with subjective threat by SARS-CoV-2 (p = 0.004), urgent or very urgent medical needs (p = 0.004), and female gender (p = 0.024). Telemedicine satisfaction by patients and physicians was high. Overall, 9.2% (n = 10) of patients reported general supply problems due to SARS-CoV-2, and 28.4% (n = 31) reported epilepsy-specific problems, most frequently related to prescriptions, or supply problems for antiseizure drugs (ASDs; 22.9%, n = 25).
Understanding and acceptance of elective ambulatory visit cancelations and the conversion to telemedicine consultations was high during the coronavirus disease 2019 (COVID-19) lockdown. Patients who engaged in telemedicine consultations were highly satisfied, supporting the feasibility and potential of telemedicine during the COVID-19 pandemic and beyond.
•Health care systems worldwide had to face reorganization during SARS-CoV-2 pandemic•Acceptance of the SARS-CoV-2-related conversion to telemedicine services was high•Urgent concerns, perception of SARS-CoV-2-associated threats, and female gender were associated with use of telemedicine•Patient and physician satisfaction with telemedicine services was high•Supply problems severely affected epilepsy patients during the SARS-CoV-2 pandemic
Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and ...male phenotypic spectrum of NEXMIF encephalopathy.
Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy.
Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism.
NEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants.
Objective
The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further ...elucidate this and inform the genetic testing approach.
Methods
Fifty‐two adult patients (30 male, 22 female) with epilepsy, at least mild ID and no known genetic or acquired cause were included and phenotyped. Variants identified through exome sequencing were evaluated using ACMG criteria. Identified variants were compared with commercially available gene panels. Cluster analysis of two features, age at seizure onset and age at ascertainment of cognitive deficits, was performed.
Results
Median age was 27 years (range 20‐57 years) with median seizure onset at 3 years and median ascertainment of cognitive deficits at 1 year. Likely pathogenic/pathogenic variants were identified in 16/52 patients (31%) including 14 (27%) single nucleotide variants and 2 (4%) copy number variants. Simulated yield of commercial gene panels varied between 13% in small (≤144 genes) and 27% in large panels (≥1478 genes).
Cluster analysis (optimal number 3 clusters) identified a cluster with early seizure onset and early developmental delay (developmental and epileptic encephalopathy, n = 26), a cluster with early developmental delay but late seizure onset (ID with epilepsy, n = 16) and a third cluster with late ascertainment of cognitive deficits and variable seizure onset (n = 7). The smaller gene panels particularly missed the genes identified in the cluster with early ascertainment of cognitive deficits and later onset of epilepsy (0/4) as opposed to the cluster with developmental and epileptic encephalopathy (7/10).
Significance
Our data indicates that adult patients with epilepsy and ID represent a heterogeneous cohort that includes grown‐up patients with DEE but also patients with primary ID and later onset of epilepsy. To maximize diagnostic yield in this cohort either large gene panels or exome sequencing should be used.
Magnetic resonance imaging (MRI) of muscles has recently become a significant diagnostic procedure in neuromuscular disorders. There is a lack of muscle MRI studies in patients with myotonic ...dystrophy type 1 (DM1), especially type 2 (DM2). To analyze fatty infiltration of leg muscles, using 3.0 T MRI in patients with genetically confirmed DM1 and DM2 with different disease durations. The study comprised 21 DM1 and 10 DM2 adult patients. Muscle MRI was performed in axial plane of the lower limbs using T1-weighted (T1w) sequence. Six-point scale by Mercuri et al. was used. Fatty infiltration registered in at least one muscle of lower extremities was found in 71% of DM1 and 40% of DM2 patients. In DM1 patients, early involvement of the medial head of gastrocnemius and tibialis anterior muscles was observed with later involvement of other lower leg muscles and of anterior and posterior thigh compartments with relative sparing of the rectus femoris. In DM2, majority of patients had normal MRI findings. Early involvement of lower legs and posterior thighs was found in some patients. Less severe involvement of the medial head of the gastrocnemius compared to other lower leg muscles was also observed, while involvement of proximal muscles was rather diffuse than selective. It seems that both in DM1 and DM2 some muscles may be affected before weakness is clinically noted and vice versa. We described characteristic pattern and way of progression of muscle involvement in DM1 and DM2.
Zusammenfassung
Hintergrund
Die Analyse krankheitsspezifischer Kosten gewinnt in einem zunehmend ökonomisch ausgerichteten Gesundheitssystem an Relevanz, wobei vor allem chronische Erkrankungen ...aufgrund der langen Krankheitsdauer sowie häufiger Hospitalisierung und Arztbesuche von besonderem Interesse sind. Epilepsien stellen eine häufige neurologische Erkrankung dar, welche mit paroxysmal auftretenden epileptischen Anfällen und häufig hiermit assoziierten Verletzungen einhergeht und alle Altersgruppen betrifft.
Ziel
Ziel der Arbeit ist die Aufarbeitung der stationären Behandlungskosten anfallsbedingter Verletzungen sowie die Analyse hinsichtlich relevanter kostenverursachender Faktoren. Mittels alternativer Kalkulation der Versorgungskosten soll zusätzlich der Frage nach potenziellen Vergütungsproblemen im aktuellen DRG-System („diagnosis related groups“) nachgegangen werden.
Methoden
Grundlage dieser monozentrischen, retrospektiven Analyse ist der tatsächliche Erlös der stationären Behandlung von 62 Patienten, die zwischen 01/2010 und 01/2018 im Universitätsklinikum Frankfurt aufgrund von Verletzungen im Rahmen epileptischer Anfälle erfolgte. Die Analyse potenzieller kostenverursachender Faktoren bezog sich auf relevante soziodemographische und klinische Aspekte, die alternative Kalkulation der Versorgungskosten wurde mit gängigen gesundheitsökonomischen Methoden durchgeführt.
Ergebnisse
Der mittlere DRG-Erlös betrug 7408 € (±8993 €, Median 5086 €, Spanne 563–44.519 €), die mittleren kalkulierten Kosten 9423 € (±11.113 €, 5626 €, Spanne 587–49.830 €). Als signifikant kostenverursachender Faktor konnte eine Liegedauer ≥7 Tage (
p
= 0,014) identifiziert werden. Aufgrund des signifikanten Unterschieds (
p
< 0,001) zwischen Erlös und kalkulierten Kosten erfolgte eine Analyse nach Faktoren für potenzielle Vergütungsprobleme, welche für eine Aufenthaltsdauer von ≥7 Tagen (
p
= 0,014) sowie für eine Behandlung auf Intensivstation (
p
= 0,019) signifikant verblieb.
Schlussfolgerung
Die stationären Versorgungskosten von Patienten mit Frakturen aufgrund epileptischer Anfälle sind hoch und daher gesundheitsökonomisch relevant. Generell scheint die auf Fallpauschalen basierende Vergütung nach G‑DRG die tatsächlichen Kosten zu decken, bei Patienten mit einer langen Liegedauer oder einen Aufenthalt auf Intensivstation können jedoch Vergütungsprobleme bestehen.
The systematic analysis of disease-specific costs is becoming increasingly more relevant in an economically oriented healthcare system. Chronic diseases are of particular interest due to the long ...duration as well as frequent hospitalization and physician visits. Epilepsy is a frequent neurological disorder affecting all age groups with the clinical hallmark of paroxysmal epileptic seizures, which are often associated with injuries.
The aim of this work was to process the inpatient treatment costs due to seizure-related injuries and fractures. Moreover, relevant cost-causing factors were addressed. Using an alternative calculation of the costs of care, the question of potential reimbursement problems in the current German diagnosis-related groups (G-DRG) system was additionally assessed.
For this monocentric retrospective analysis the actual proceeds of 62 inpatients who were treated at the University Hospital Frankfurt between January 2010 and January 2018 for injuries and fractures due to epileptic seizures were used. The analysis of potential cost-causing factors was carried out with respect to relevant sociodemographic and clinical aspects. The alternative calculation of the costs of treatment was carried out using established health economic methods.
The average DRG revenue was 7408€ (±8993€, median 5086€, range 563-44,519€), the average calculated costs were 9423€ (±11,113€, 5626€, range 587-49,830€). A length of stay ≥7 days (p = 0.014) was identified as a significant cost-driving factor. Due to the significant difference (p < 0.001) between revenue and calculated costs, an analysis was made according to factors for potential reimbursement problems, which remained significant for a length of stay of ≥7 days (p = 0.014) and for treatment in the intensive care unit (p = 0.019).
The inpatient treatment costs for patients with injuries and fractures due to epileptic seizures are high and therefore relevant from a health economic perspective. In general, reimbursement according to the G‑DRG appears to cover the actual costs, but there may be reimbursement problems for patients with a long period of hospitalization or a stay in an intensive care ward.
Dünya Sağlık Örgütü (DSÖ), etkili tedavilere ek olarak pandemiyi kontrol edebilmek için aşıların geliştirilmesi önceliğini vurgulamaktadır. Etkili sağlık politikalarının belirlenmesi için COVID-19 ...aşılarının kabul edilebilirliğinin ve aşı için ödeme istekliliğinin bilinmesinin önemli olduğu düşünülmektedir. Bu çalışma, bireylerin COVID-19 aşısı için ödeme istekliliğini ve ödeme istekliliğini etkileyen etmenleri ortaya koymayı amaçlamaktadır. Çalışmada, COVID-19 aşısı için ödeme istekliliğini inceleyen araştırmalar sistematik olarak derlenmiştir. Farklı ülkelerde yapılan çalışmalar katılımcıların yüksek oranda aşılama niyetinin olduğunu ve COVID-19 aşısı için ödeme istekliliğinin 6,81-291 USD arasında değiştiğini göstermektedir. Aylık gelirin daha yüksek olması ve COVID-19 ile enfekte olma riskinin daha yüksek algılanması ödeme istekliliği ile ilişkili bulunmuştur. Bireylerin COVID-19 aşı maliyetine gelirleri ölçüsünde katkı sağlamasının kamu sağlık harcaması üzerindeki yükü azaltabileceği düşünülmektedir. Bununla birlikte, yeterince yüksek bir aşı kapsamı elde etmek için aşıların sübvanse edilmesi gerekmektedir.
World Health Organization (WHO) emphasizes the priority of developing vaccines to control the pandemic in addition to effective treatments. It is considered important to know the acceptability of the COVID-19 vaccines and the willingness to pay for the vaccine in order to determine effective health policies. This study aims to reveal the factors affecting the willingness and individuals' willingness to pay for the COVID-19 vaccine. In the study, research examining the willingness to pay for the COVID-19 vaccine was systematically reviewed. Studies conducted in different countries show that participants have a high rate of vaccination intention and their willingness to pay for COVID-19 vaccine varies between 6.81-291 USD. Higher monthly income and higher perceived risk of being infected with COVID-19 were associated with willingness to pay. It is thought that the contribution of individuals to the cost of COVID-19 vaccine to the extent of their income can reduce the burden on public health expenditures. However, vaccines need to be subsidized to achieve sufficiently high vaccine coverage.
Abstract The purpose of this prospectively designed cross-sectional observational study was to evaluate the effect of polycystic ovary syndrome (PCOS) on pituitary gland volume (PGV) under the ...hypothesis that endocrinologic changes may lead to morphologic changes of the pituitary gland. Twenty-six PCOS patients and 31 control subjects underwent magnetic resonance imaging (MRI) of the pituitary. Informed consent was obtained from all subjects. PGV was significantly larger in PCOS patients than in control subjects. Luteinizing hormone/follicle-stimulating hormone ratio was the only predictor of PGV. The association between pituitary gland enlargement and PCOS should be kept in mind when pituitary hypertrophy is detected on MRI.
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