1,720,994 research outputs found
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis
No full textAbstract Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With the majority of cases being sporadic, we conducted a cohort study to describe the mutational landscape of sporadic amyotrophic lateral sclerosis. We analysed genetic variants in amyotrophic lateral sclerosis-associated genes to assess and potentially increase the number of patients eligible for gene-specific therapies. We screened 2340 sporadic amyotrophic lateral sclerosis patients from the German Network for motor neuron diseases for variants in 36 amyotrophic lateral sclerosis-associated genes using targeted next-generation sequencing and for the C9orf72 hexanucleotide repeat expansion. The genetic analysis could be completed on 2267 patients. Clinical data included age at onset, disease progression rate and survival. In this study, we found 79 likely pathogenic Class 4 variants and 10 pathogenic Class 5 variants (without the C9orf72 hexanucleotide repeat expansion) according to the American College of Medical Genetics and Genomics guidelines, of which 31 variants are novel. Thus, including C9orf72 hexanucleotide repeat expansion, Class 4, and Class 5 variants, 296 patients, corresponding to ∼13% of our cohort, could be genetically resolved. We detected 437 variants of unknown significance of which 103 are novel. Corroborating the theory of oligogenic causation in amyotrophic lateral sclerosis, we found a co-occurrence of pathogenic variants in 10 patients (0.4%) with 7 being C9orf72 hexanucleotide repeat expansion carriers. In a gene-wise survival analysis, we found a higher hazard ratio of 1.47 (95% confidence interval 1.02–2.1) for death from any cause for patients with the C9orf72 hexanucleotide repeat expansion and a lower hazard ratio of 0.33 (95% confidence interval 0.12–0.9) for patients with pathogenic SOD1 variants than for patients without a causal gene mutation. In summary, the high yield of 296 patients (∼13%) harbouring a pathogenic variant and oncoming gene-specific therapies for SOD1/FUS/C9orf72, which would apply to 227 patients (∼10%) in this cohort, corroborates that genetic testing should be made available to all sporadic amyotrophic lateral sclerosis patients after respective counselling
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study
No full textAbstract Objective To assess the performance of serum neurofilament light chain (sNfL) in clinical phenotypes of amyotrophic lateral sclerosis (ALS). Method s In 2949 ALS patients at 16 ALS centers in Germany and Austria, clinical characteristics and sNfL were assessed. Phenotypes were differentiated for two anatomical determinants: (1) upper and/or lower motor involvement (typical, typMN; upper/lower motor neuron predominant, UMNp/LMNp; primary lateral sclerosis, PLS) and (2) region of onset and propagation of motor neuron dysfunction (bulbar, limb, flail‐arm, flail‐leg, thoracic onset). Phenotypes were correlated to sNfL, progression, and survival. Results Mean sNfL was ‐ compared to typMN (75.7 pg/mL, n = 1791) ‐ significantly lower in LMNp (45.1 pg/mL, n = 413), UMNp (58.7 pg/mL n = 206), and PLS (37.6 pg/mL, n = 84). Also, sNfL significantly differed in the bulbar (92.7 pg/mL, n = 669), limb (64.1 pg/mL, n = 1305), flail‐arm (46.4 pg/mL, n = 283), flail‐leg (53.6 pg/mL, n = 141), and thoracic (74.5 pg/mL, n = 96) phenotypes. Binary logistic regression analysis showed highest contribution to sNfL elevation for faster progression (odds ratio [OR] 3.24) and for the bulbar onset phenotype (OR 1.94). In contrast, PLS (OR 0.20), LMNp (OR 0.45), and thoracic onset (OR 0.43) showed reduced contributions to sNfL. Longitudinal sNfL (median 12 months, n = 2862) showed minor monthly changes (<0.2%) across all phenotypes. Correlation of sNfL with survival was confirmed ( p < 0.001). Conclusions This study underscored the correlation of ALS phenotypes – differentiated for motor neuron involvement and region of onset/propagation – with sNfL, progression, and survival. These phenotypes demonstrated a significant effect on sNfL and should be recognized as independent confounders of sNfL analyses in ALS trials and clinical practice
End of life perspectives: a systematic survey of patients with amyotrophic lateral sclerosis
No full textZusammenfassung Hintergrund Die amyotrophe Lateralsklerose (ALS) ist eine Erkrankung, die weiterhin vorwiegend symptomatisch bzw. palliativ behandelt werden muss. Umso wichtiger ist es, neben der Initiierung von Therapien wie Perkutane endoskopische Gastrostomie (PEG), nichtinvasiver Beatmungstherapie (NIBT), invasiver Beatmungstherapie mit Tracheotomie (IBT), beizeiten über die mögliche Beendigung dieser Maßnahmen zu sprechen. Fragestellung Welche Bedeutung haben Patientenverfügungen für die Betroffenen und wo liegen eventuelle Defizite der Therapieplanung für das Lebensende? Material und Methode An sechs Behandlungszentren wurden im Zeitraum zwischen März 2017 und Januar 2019 Patienten mit der klinisch sicheren Diagnose ALS gebeten, einen Fragebogen auszufüllen. Insgesamt haben 328 Personen diese Bögen ausgefüllt zurückgegeben. Ergebnisse Insgesamt 72 % der Befragten besaßen eine Patientenverfügung (PV), 25 % planten eine solche auszufüllen, lediglich 3 % lehnten dies ab. Beim Verfassen der PV hatten die meisten Patienten (90 %) Unterstützung erhalten, bei 56 % fand jedoch keine ärztliche Beratung statt und lediglich 18 % hatten ihre Verfügung gemeinsam mit Arzt und Angehörigen erstellt, wobei sich die Mehrzahl eine Unterstützung auch durch einen Arzt gewünscht hätte. 37 % aller Patienten wünschten sich einen Ansprechpartner, um über ihre Erkrankung zu sprechen, lediglich 40 % von diesen hatten einen solchen Ansprechpartner. 22 % aller Patienten gaben an, einen Suizid erwogen zu haben. Von diesen gaben 55 % an, keinen Ansprechpartner für die psychische Belastung durch die Erkrankung zu haben; 31 % gaben aber an, dass sie gerne einen Ansprechpartner hätten. Diskussion und Schlussfolgerung Eine koordinierte Versorgung von ALS-Patienten, die auch die psychosozialen Aspekte in den Blick nimmt, ist dringend erforderlich.Abstract Background Amyotrophic lateral sclerosis (ALS) is a disease that still has to be primarily treated symptomatically or palliatively. It is therefore all the more important, in addition to initiating treatment, such as percutaneous endoscopic gastrostomy (PEG), noninvasive ventilation therapy (NIVT) and invasive ventilation therapy via tracheotomy (IVT), to discuss the possible termination of these measures early on. Question What is the importance of advance directives for those affected and where are possible deficits in therapy planning for the end of life? Material and method Between March 2017 and January 2019 patients with a clinically confirmed diagnosis of ALS at six treatment centers were asked to fill out a questionnaire. A total of 328 people returned the completed forms. Results Of the participants 72% had already made an advance directive (AD), 25% planned to fill one out and only 3% refused to do so. In composing the AD most patients (90%) had support, although 56% lacked medical counselling and only 18% had drawn up the will together with the doctor and relatives, with the majority of the rest also wanting support from a doctor. A total of 37% of all patients wanted a contact person to talk about their illness but only 40% of them had such a contact person. Of the patients 22% stated that they had considered suicide and of these only 55% stated that they had no contact person for the psychological stress caused by the illness but 31% wished to have such a person. Discussion and conclusion A coordinated care of ALS patients, which also takes the psychosocial aspects into account is urgently needed.Zusammenfassung Hintergrund Die amyotrophe Lateralsklerose (ALS) ist eine Erkrankung, die weiterhin vorwiegend symptomatisch bzw. palliativ behandelt werden muss. Umso wichtiger ist es, neben der Initiierung von Therapien wie Perkutane endoskopische Gastrostomie (PEG), nichtinvasiver Beatmungstherapie (NIBT), invasiver Beatmungstherapie mit Tracheotomie (IBT), beizeiten über die mögliche Beendigung dieser Maßnahmen zu sprechen. Fragestellung Welche Bedeutung haben Patientenverfügungen für die Betroffenen und wo liegen eventuelle Defizite der Therapieplanung für das Lebensende? Material und Methode An sechs Behandlungszentren wurden im Zeitraum zwischen März 2017 und Januar 2019 Patienten mit der klinisch sicheren Diagnose ALS gebeten, einen Fragebogen auszufüllen. Insgesamt haben 328 Personen diese Bögen ausgefüllt zurückgegeben. Ergebnisse Insgesamt 72 % der Befragten besaßen eine Patientenverfügung (PV), 25 % planten eine solche auszufüllen, lediglich 3 % lehnten dies ab. Beim Verfassen der PV hatten die meisten Patienten (90 %) Unterstützung erhalten, bei 56 % fand jedoch keine ärztliche Beratung statt und lediglich 18 % hatten ihre Verfügung gemeinsam mit Arzt und Angehörigen erstellt, wobei sich die Mehrzahl eine Unterstützung auch durch einen Arzt gewünscht hätte. 37 % aller Patienten wünschten sich einen Ansprechpartner, um über ihre Erkrankung zu sprechen, lediglich 40 % von diesen hatten einen solchen Ansprechpartner. 22 % aller Patienten gaben an, einen Suizid erwogen zu haben. Von diesen gaben 55 % an, keinen Ansprechpartner für die psychische Belastung durch die Erkrankung zu haben; 31 % gaben aber an, dass sie gerne einen Ansprechpartner hätten. Diskussion und Schlussfolgerung Eine koordinierte Versorgung von ALS-Patienten, die auch die psychosozialen Aspekte in den Blick nimmt, ist dringend erforderlich.Abstract Background Amyotrophic lateral sclerosis (ALS) is a disease that still has to be primarily treated symptomatically or palliatively. It is therefore all the more important, in addition to initiating treatment, such as percutaneous endoscopic gastrostomy (PEG), noninvasive ventilation therapy (NIVT) and invasive ventilation therapy via tracheotomy (IVT), to discuss the possible termination of these measures early on. Question What is the importance of advance directives for those affected and where are possible deficits in therapy planning for the end of life? Material and method Between March 2017 and January 2019 patients with a clinically confirmed diagnosis of ALS at six treatment centers were asked to fill out a questionnaire. A total of 328 people returned the completed forms. Results Of the participants 72% had already made an advance directive (AD), 25% planned to fill one out and only 3% refused to do so. In composing the AD most patients (90%) had support, although 56% lacked medical counselling and only 18% had drawn up the will together with the doctor and relatives, with the majority of the rest also wanting support from a doctor. A total of 37% of all patients wanted a contact person to talk about their illness but only 40% of them had such a contact person. Of the patients 22% stated that they had considered suicide and of these only 55% stated that they had no contact person for the psychological stress caused by the illness but 31% wished to have such a person. Discussion and conclusion A coordinated care of ALS patients, which also takes the psychosocial aspects into account is urgently needed
Provision, cough efficacy and treatment satisfaction of mechanical insufflation-exsufflation in a large multicenter cohort of patients with amyotrophic lateral sclerosis
No full textAbstract In patients with amyotrophic lateral sclerosis (ALS), mechanical insufflation-exsufflation (MI-E) addresses cough deficiency to achieve major therapeutic goals: improving costal muscle and joint function, reducing atelectasis through insufflation, and clearing bronchial secretions via exsufflation. Despite its perceived benefits, there is limited systematic research on MI-E provision, symptom alleviation, or patient satisfaction. The research platform Ambulanzpartner coordinated this longitudinal observational study conducted in 12 German ALS centers from July 2018 to September 2023. Patients were enrolled based on ALS-related cough deficiency requiring MI-E therapy. The study recorded provision, reasons for withholding MI-E, clinical parameters, therapy frequency, subjective cough deficiency, and symptomatic relief. Satisfaction with MI-E therapy was determined by the likelihood of recommendation. Out of 694 ALS patients indicated for MI-E, 527 (75.9%) received the therapy. The primary reason for non-provision was that the patient had died before provision (n = 66 of 167; 39.5%). These patients were significantly more affected as represented by higher progression rates and lower cough peak flows (CPF) at the time of MI-E indication ( p < 0.05). Most patients who received MI-E used it daily (n = 290 of 370; 78.4%). Self-assessed cough deficiency correlated with clinical measurements, especially for patients with higher deficits. At follow-up visits, patients reported reduced cough deficiency ( p < 0.001). Frequent MI-E use was linked to greater symptom relief and higher likelihood of recommending the therapy. This study highlights the symptomatic and palliative potential of MI-E therapy for ALS patients
Shared prognostic information in amyotrophic lateral sclerosis – systematic assessment of the patients’ perception of neurofilament light chain and the ALS functional rating scale
No full textAbstract Background In amyotrophic lateral sclerosis (ALS), neurofilament light chain (NfL) was introduced as a prognostic biomarker. More recently, NfL values can be shared on the patient’s ALS app. Also, the ALS functional rating scale (ALSFRS-R) is an established patient-reported assessment of disease progression. The scale can be obtained during clinic visits or remotely. However, few systematic data are available on the patients’ perception of prognostic information about NfL and ALSFRS-R and the remote sharing of these data. Methods In a multicenter study, 149 ALS patients were assessed for their perception of shared information about NfL and ALSFRS-R using an investigator-designed survey and established questionnaires. The recommendation of NfL and ALSFRS-R to fellow patients was assessed using the Net Promoter Score (NPS). Burden by shared information was investigated in two distinct settings: (1) clinic information when receiving results on NfL and/or ALSFRS-R during clinic visits and (2) remote information about NfL values and self-rating of the ALSFRS-R via the ALS app. General anxiety was measured by the Fear of Progression Questionnaire – Short Form (FoP-Q-SF). Results Information about NfL and ALSFRS-R, respectively ( n = 149), were regarded as relevant for patients themselves (75.2% and 77.2%) and for research (98% and 96%). The NPS showed a high recommendation rate for NfL (+ 21) and ALSFRS-R (+ 26). Only a minority of patients perceived shared information about NfL as burdensome, with a lower burden in the clinic setting ( n = 1, 4.2%) than in the remote setting ( n = 8, 12%; p = 0.015). Remote digital assessment of the ALSFRS-R was well received, with a reported burden in 9.8% ( n = 9) of the participants. The FoP-Q-SF revealed fear of progression in 40% of the respondents ( n = 60). Conclusions This study underscored the relevance of information about NfL and ALSFRS-R from the patient’s perspective. Furthermore, patients proved to appreciate the relevance of this data for ALS research. Sharing information about NfL or ALSFRS-R was rarely perceived as burdensome even in a remote setting using the ALS app. These findings pave the way for further development of the patient-centered approach to sharing prognostic information in ALS
Untersuchung des Einflusses der Umgebungshelligkeit auf die diagnostische Leistung im Bereich der Frakturdiagnostik am Bildschirm
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