107,832 research outputs found
Big data for a rare disease: complexity and usefulness
No full textIntroduction: Cystic Fibrosis (CF) is a genetic rare disease, but the concerted actions of medical personnel, researchers and patients allowed the institution of the European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect information on a large number of patients from different European countries in a common format [1].
Objectives: The aim is to show the complexity of the ECFSPR that deals with the management and analysis of a large amount of data and the usefulness of such information for the care of CF patients.
Methods: The ECFSPR collects information on CF European patients (diagnosis, genetics, lung function, growth, complications, microbiology, therapy and transplantation) collated annually by national CF registries and individual CF centres since 2003 (cross-sectional data till 2007, longitudinal data from 2008): it includes data of about 30,000 patients from 22 countries [2]. In order to identify and solve problems, a team that daily works on the ECFSPR was set up ‘service desk’ together with an executive committee and a steering group composed by national representatives that define the major activities of the ECFSPR (data protection legislation, use of data). The research activity is supervised by a scientific committee that identifies major research areas and approves the external data requests.
Results: The critical aspects encountered in the institution of the ECFSPR (definition of the population under study, of inclusion criteria, of what to measure and how) were dealt with a definition group whose members have different expertise and a long experience in CF in creation of healthcare databases.
Assessment of whether patients registered meet the inclusion criteria, data quality controls and data management, handling of missing data, maintaining patient confidentiality and dissemination of data are activities that need to be carried out daily. The assessment of the compliance of the inclusion criteria is responsibility of the national CF registries and individual CF centres since the information sent to ECFSPR are not enough to decide if patients can be included or not. The experience and the expertise of each member of the data quality control group allowed creation of a complete and shared list of data quality controls that are performed by all national registry data managers before sending the data to the ECFSPR. The data management and the handling of missing data are the main activities of the working group: from the uploading of the data to the freezing of the database through the process of correction of the inconsistencies found in the data, the registry coordinator, the service desk and the statistician work in close contact with the national and centres representatives. Maintaining patients confidentiality is one of the crucial aspects in order to reassure patients that decide to give the consent of the use of their data. With a clear language, the ECFSPR gives the necessary information to the patient in order to ensure that security measures meet data protection legislation and are updated if necessary.
The availability of the information on a large number of patients affected by a rare disease allows the study of the epidemiology of the CF [3, 4], also focusing on CF atypical patients. The availability of this information allows also the identification of group of patients eligible for clinical trials that, otherwise, could not be carried out if only a small number of patients were involved. Pharmacovigilance is a potential aspect that can be investigated in order to record adverse events following the use of treatments.
Monitoring care services in the European countries and, for future, planning adequate CF centres are other activities that the availability of a large amount of information makes possible [5]. Giving an answer to a clinical request needs to take into account that these are registry data and they are not collected with ad hoc studies. However, studies on registry data can have an explorative nature and ad hoc studies can be carried out starting from the first results obtained by the ECFSPR.
Conclusions: The complexity of the ECFSPR is magnified by the international setting: agreement on all the aspects of the involvement into the ECFSPR is not easily reached in a short time. However the usefulness of information for the care of CF patients that can be obtained from a European registry for a rare disease is inestimable, therefore all the difficulties are faced and overcome.
References
[1] Viviani L, Zolin A, Mehta A, Olesen HV. The European Cystic Fibrosis Society Patient Registry: valuable lessons learned on how to sustain a disease registry. Orphanet J Rare Dis. 2014 Jun 7;9(1):81. doi:10.1186/1750-1172-9-81.
[2] Zolin A, McKone EF, van Rens J et al. ECFSPR Annual Report 2010, 2014, accessed on 15th May 2015.
[3] Kerem E, Viviani L, Zolin A, MacNeill S, Hatziagorou E, Ellemunter H, Drevinek P, Gulmans V, Krivec U, Olesen H on behalf of the ECFS Patient Registry Steering Group. Modifiers of pulmonary function in cystic fibrosis: analysis of the data of the ECFS Patient Registry. Eur Respir J. 2014 Jan;43(1):125-33. doi: 10.1183/09031936.00166412.
[4] De Boeck K, Zolin A, Cuppens H, Olesen HV, Viviani L. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J Cyst Fibros. 2014 Jul;13(4):403-9. doi: 10.1016/j.jcf.2013.12.003.
[5] Burgel PR, Bellis G, Olesen HV, Viviani L, Zolin A, Blasi F, Elborn JS; ERS/ECFS Task Force on The Provision of Care for Adults with Cystic Fibrosis in Europe. Future trends in cystic fibrosis demography in 34 European countries. Eur Respir J. 2015 Mar 18. pii: ERJ-01963-2014
Både godt og skidt. Peter H. Olesen Jeg er blevet lokal
No full textPeter H. Olesen Jeg er blevet loka
E.B. Olesen Photograph Collection (P0318)
No full textThis collection is comprised of nitrate and glass plate negatives taken by W.H. Hopkins. The photos are categorized according to the location in which they were taken. Photograph locations include Alta Ski Resort, American Fork Canyon, Bingham Copper Mine, Brighton Ski Resort, Boulder Dam, Provo, Salt Lake City, Southern Utah sites, Timpanogos, University of Utah, and photos from an outing of the Wasatch Mountain Club. W.H. Hopkins was a Salt Lake City dentist and an avid amateur photographer. The collection was purchased from book dealer Orrin Schwab in 1998 with funds from the E.B. Olesen Endowment. Original nitrate negatives were removed to cold storage
Hansenocaris aquila Grygier and Olesen 2022, sp. nov.
No full textHansenocaris aquila Grygier and Olesen, sp. nov. [New Japanese name: Washi-chou-kou-mushi] (Fig. 6) Diagnosis. In last-stage nauplius, labrum wine-glassshaped in ventral view with rounded posteriolateral corners, median keel carrying 3–4 small spines, and robust, sharply pointed posterior spine reminiscent of eagle’s beak. Labral surface with characteristic ridge pattern described below. Cephalic shield clearly and completely reticulated. Dorsum of faciotrunk with 4 longitudinal spine rows, inner pair of rows longer than outer pair. Second antennae and mandibles devoid of feeding structures (lecithotrophic), segmentation of their exopods and endopods 6/5 and 1/1, respectively. First maxillae and dorsocaudal organ absent. Dorsocaudal spine nearly as long as trunk dorsum preceding it, armed with robust spines. Furcal spines small. Type locality. Off pier at the University of the Ryukyus Tropical Biosphere Research Center, Sesoko Station, on Sesoko Island, Okinawa Prefecture, Japan (26°38′09.3″N 127°51′55.2″E). Type material. Holotype: exuvium of last-stage nauplius prepared as semi-permanent glycerine jelly slide-mount, Natural History Museum of Denmark. NHMD-1174615; collected alive as young nauplius on 22 September 2005, last stage isolated from batch culture on 25 September, its empty molt retrieved on 27 September. Paratype: exuvium of laststage nauplius prepared as semi-permanent glycerine jelly slide-mount, Natural History Museum of Demark. NHMD-1174616; collected alive as young nauplius on 16–19 July 1996, final exuvium recovered on 22 July; unclear which of 2 cyprids mounted on same slide corresponds to this nauplius. Both type specimens collected and processed by M. J. Grygier. Etymology. The Latin name is a noun in apposition, “ aquila ” (=“eagle”), referring to the large, strongly pointed, eagle-beak-like extension of the posterior margin of the labrum. The new Japanese name combines “washi” (Japanese for “eagle,” again referring to the labrum) with an existing Japanese name for Facetotecta (“chou-kou-rui”) plus “mushi,” meaning “bug” or “worm.” Description (holotype). A last-stage nauplius larva (Fig. 6). Habitus (Fig. 6A, B). Cephalic portion slightly oblateoval, trunk portion long and attenuate. Total length 500 µm; length and width of cephalic shield 265 and 210 µm, respectively; anterior width and post-labral length of trunk in ventral view 105 µm and 350 µm, respectively. Length (measured from furcal spines) and basal diameter (at position of furcal spines) of dorsocaudal spine 100 µm and 30 µm, respectively. No lateral view available but long axes of cephalic shield, trunk, and dorsocaudal spine apparently nearly in same plane (no significant bending). Cephalic shield (Fig. 6C). With dense, nearly symmetrical pattern of reticulate ridges outlining many so-called plates, or facets. Setation and pore pattern of shield not clearly visible, but posteriolateral corners lacking H. cristalabri -like pair of spine-bounded notches. Plates or facets centered on rounded-quadrangular ‘window’ (W) at about one-third length along midline, but only those near W (Fig. 6C) easily identifiable with those of H. cristalabri sp. nov. and H. furcifera. Namely, region of primordial ‘frontal’ plate F-1 represented by pair of small pentagonal plates flanking W and by transverse row of 4 small plates preceding these and W; region of primordial ‘frontal’ plate F-2 possibly represented by array of 6 small plates preceding F-1 region, including transverse central pair and 2 longitudinally oriented lateral pairs; and primordial ‘occipital’ plates O-1 and O-2 represented by 2 successive pairs of large plates posterior to W. Configuration of all other plates, including more anterior F-plates, more posterior O-plates, and most non-ax-ial plates, differing from those in H. cristalabri sp. nov. and H. furcifera (cf. Fig. 4E) and, owing to lack of information about important “land-mark” pores and setae, also difficult to homologize with any other species’ primordial plates; therefore, detailed description omitted. Labrum (Fig. 6A, B, D, E). Excluding its robust, sharply pointed, 35 µm long posterior extension, main portion of labrum obovate or rounded-spatulate in ventral view, 80 µm long and 60 µm wide, with median keel bearing row of 3 small but distinct and equal distal spines preceded by anoth-er minute spine. Labral surface divided by ridges into facets as follows: 2 elongated and overlapping facets along each lateral margin, with more anterior pair meeting in anterior midline; paired diagonal rows of 4 facets situated medial to these, extending from anterior midline to posteriolateral margin; 1 pair of posteriomesial facets preceding 2 small pairs flanking spine at posterior margin; and keel-bearing facet(s) along labrum’s posterior midline. First antenna (Fig. 6F). Apparently 3-segmented, excluding narrow sclerites between 3 main segments. Unarmed first segment short, cylindrical (15 µm long, 20 µm in diameter). Unarmed second segment short, cylindrical (20 µm long, 17 µm in diameter). Distal segment 45 µm long, digitiform with moderate preaxial swelling of proximal 50%. This segment thickest (19 µm) at 1/3 length, with 3 apical setae: 2 long and 1 short. Second antenna (Fig. 6G). Biramous with unclear proximal segmentation. Unarmed coxa about as thick as long (25 µm), unarmed basis shorter (20 µm long). Exopod 50 µm long, 6-segmented with rudimentary (perhaps not fully annular) proximal segment and further segments gradually becoming smaller distally, apparently bearing 5 setae in all. Endopod 1-segmented, cylindrical, 15 µm long and 7 µm thick, bearing 2 long apical setae. Mandible (Fig. 6). Similar to second antenna but smaller, again with unclear proximal segmentation. Coxa longer than basis (16 µm vs. 14 µm) and of slightly greater diameter (16 µm). Exopod 40 µm long, 5-segmented, apparently bearing 4 setae. Endopod 1-segmented, 10 µm long and 3–4 µm thick, bearing 2 long apical setae. Hind part of faciotrunk (Fig. 6A, B, J). Trunk divisible into long, sparsely ornamented anterior part, heavily and concentrically ornamented posterior part, and heavily armed dorsocaudal spine. Anterior 15% or so of venter with short and sparse transverse ridges, followed by somewhat swollen and rounded middle region with short transverse ridges along midline and, more laterally, paired rows of bumps evidently representing future thoracopodal setae; in posterior third, concentric ridges well expressed and bearing small spinules (Fig. 6A, B). Trunk dorsum with 2 dorsal rows of spines along nearly whole length from first or second transverse ridge to base of dorsocaudal spine, with slight discontinuity posterior to midlength, and additional shorter dorsolateral pair of spine rows reaching only to dorsal rows’ points of discontinuity (4 spine rows in total) (Fig. 6B). Dorsocaudal organ (or positionally equivalent mid-dorsal trunk pore) absent. Dorsocaudal spine (Fig. 6A, B) armed with large subsidiary spines along entire length, except at sharply pointed tip. Pair of small (7 µm long), pointed furcal spines arising anterioventrally to base of dorsocaudal spine (Fig. 6J). Midventral (anal?) pore not observed. No “ghost” of cyprid thorax (see Grygier et al. 2019) detected inside slide-mounted exuvium. Description (Paratype). Trunk region rotated on slide relative to cephalic region, and posteriolateral part of one side of cephalic shield distorted; therefore, some of following measurements probably different in life. Total length 530 µm; cephalic shield length along midline 277 µm, maximal width 215 µm, posterior width 147 µm; dorsal trunk length 257 µm including 97 µm long dorsocaudal spine. Dorsocaudal spine similarly spiny to that of holotype. Labrum 113 µm long including posterior medial spine, maximal width 70 µm; main portion with same roundedspatulate or obovate shape as that of holotype and with row of small spines preceding robust, beak-like posterior extension, latter relatively shorter (23 µm) than that of holotype; cuticular ridge pattern of labrum resembling that of holotype. Four longitudinal rows of spines on trunk dorsum: 2 inner rows extending from about fourth transverse ridge to base of dorsocaudal spine, 2 outer rows extending from anterior margin only half this distance posteriorly. Limb setation as follows: first antenna with 1 long and 1 medium-long apical setae; second antenna with unarmed coxa and basis, 2 apical setae on 1-segmented endopod, and 5 setae on 6-segmented exopod (0-0-1-1-1-2); mandible similar but exopod 5-segmented with 1-1-1-2 setal arrangement. No cyprid “ghost” visible within exuvium, but pair of oval (19.5×5.5µm), purportedly “ghost”-related anterioventral invaginations present on trunk (Fig. 6B).Published as part of Olesen, JØrgen & Grygier, Mark J., 2022, Two New Species of Lecithotrophic Nauplius y with Remarkable Labra from Okinawa, Japan, and a Family-Group Name for y-Larvae (Crustacea: Thecostraca: Facetotecta: Hansenocarididae fam. nov.), pp. 301-317 in Species Diversity 27 (2) on pages 307-308, DOI: 10.12782/specdiv.27.301, http://zenodo.org/record/752272
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe 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
Employability and Work Life History
No full textElaborating the notion of employability, this chapter presents reasons for applying life history interviews to the data collection and its analysis. It initially advances a concept of learning that is based in adult learners’ lifelong continuous experience in everyday life. Within this framework is progressed an account of how work life history interviews enable a longitudinal elaboration and understanding of individuals’ learning histories that complements the cross-case focus on specific forms of transitions adults have to negotiate across their working lives. Following this, the presentation and discussion of three examples of (work) life histories. The next section elaborates the particular contribution of individual work life histories to the analysis of employability: They give a holistic picture of real people and they make visible how learning is integrated in an identity process. The final section addresses the societal effects of learning under the concept of competence development. It is pointed out that dominant concepts of competence tend to fail in recognizing the subjective aspect of competence development which is based in life experience and can be illuminated in life histories. Finally, some consequences for practice and policy of the life history analysis are briefly outlined.</p
Appropriate Similarity Measures for Author Cocitation Analysis
No full textWe 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
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