The mid-sixteenth century was a time of rapidly intensifying interest in the study of living nature. Networks of experts described a rapidly growing number of species, complementing descriptions... Show moreThe mid-sixteenth century was a time of rapidly intensifying interest in the study of living nature. Networks of experts described a rapidly growing number of species, complementing descriptions with ad vivum depictions. Since the increase in the number of known species soon called for an organisation of this information, to keep this accessible and navigable, naturalists experimented with classifications and the presentation of information in text and image. This dissertation explores questions about the management of knowledge and information specifically in the context of natural history, looking at a subfield of zoology, the study of fishes and other aquatic animals, as an example, taking as a point of departure the works published by the naturalist Conrad Gessner (1516-1565). Gessner aimed to incorporate into his works an overview of the state of knowledge. As a result his work presents an ideal case study from which to approach questions such as: What happens when a field of knowledge experiences a sudden influx of information? How is information made accessible, how do researchers keep the overview of an increasing quantity of information? How is rudimentary and incomplete information processed and presented, how does it affect established interpretations and methods of working? Show less
Background: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral... Show moreBackground: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.Objective: to map existing bone and mineral conditions registries in Europe and their characteristics.Methods: online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.Results: sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.Conclusions: There is a need for developing a common high-quality platform for registering rare bone and mineral conditions. Show less
This dissertation, Layered Loyalties: The Natuurkundige Commissie in the Netherlands Indies (1820-1850), studies the Natuurkundige Commissie. The Commissie was established by Royal Decree on May 2,... Show moreThis dissertation, Layered Loyalties: The Natuurkundige Commissie in the Netherlands Indies (1820-1850), studies the Natuurkundige Commissie. The Commissie was established by Royal Decree on May 2, 1820, by King Willem I and its purpose was to ‘to promote the knowledge of the natural condition and the products [of nature] of our possessions in the East Indies.’ Between 1820 and 1842, eight members and six assistants were appointed and sent to the Dutch East Indies. An additional two members and 14 assistants were appointed in the East Indies. These 30 naturalists mapped the nature of the Netherlands Indies over a period of 30 years until the Commissie was dissolved in 1850. The main goal of this dissertation is to find out how the Natuurkundige Commissie functioned across space (between the Netherlands and the Indies) and time (over a period of thirty years). Studying the relationship between the participants and the three main stakeholders (the Dutch government, the natural history museum in Leiden, and the colonial government) of the Commissie leads to a new understanding of how the Commissie functioned and fulfilled its intended purposes. Show less
Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).Design: Retrospective cohort study.Participants: Three hundred forty patients with... Show morePurpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).Design: Retrospective cohort study.Participants: Three hundred forty patients with XLRS from 178 presumably unrelated families.Methods: This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence).Main Outcome Measures: Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings.Results: Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's rho = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G -> A (p.(G1u72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]).Conclusions: Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found. (C) 2021 by the American Academy of Ophthalmology. Show less
Retinal dystrophies comprise relatively rare but devastating causes of progressive vision loss. They represent a spectrum of diseases with marked genetic and clinical heterogeneity. Mutations in... Show moreRetinal dystrophies comprise relatively rare but devastating causes of progressive vision loss. They represent a spectrum of diseases with marked genetic and clinical heterogeneity. Mutations in the same gene may lead to different diagnoses, e.g. retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to the same phenotype. The age at symptom onset, as well as the rate of vision decline, may vary widely per disease group and even within families. For most IRD cases, no effective treatment is currently available. However, preclinical studies and phase I/II/III gene therapy trials are ongoing for several IRD subtypes, and recently the first retinal gene therapy has been approved by the United States Food and Drug Administration for RPE65-associated IRDs: voretigene neparvovec-rzyl (Luxturna®). With these rapid advances in gene therapy studies, insight into the phenotypic spectrum and long-term disease course becomes crucial. The vast clinical heterogeneity presents an important challenge in the evaluation of potential efficacy in future treatment trials, and in establishing treatment candidacy criteria. This thesis responds to these challenges, providing detailed clinical descriptions of several forms of IRD that are caused by genes of interest for ongoing and future gene or cell-based therapy trials. Show less
This dissertation examines how in eighteenth-century Europe, naturalists sought to study, grasp and capture the world of fish. Working on the intersection of the history of science and book history... Show moreThis dissertation examines how in eighteenth-century Europe, naturalists sought to study, grasp and capture the world of fish. Working on the intersection of the history of science and book history, this research aims to shed light on how naturalists came to present themselves as authorities in an emerging field. It does so by focussing on a set of ‘fish books’, i.e., natural historical works that describe and depict fish. The first is Francis Willughby and John Ray’s "Historia piscium" (Oxford, 1686); the second Peter Artedi’s "Ichthyologia sive opera omnia de piscibus" (Leiden, 1738), and the third Marcus Élieser Bloch’s twelve volume series "Allgemeine Naturgeschichte der Fische" (Berlin, 1782–1795). These works are analysed alongside correspondences, manuscripts and natural historical collections. Together, these sources show that the development of the study of fish in this period can be best be understood as a process of continuous demarcation. This dissertation argues that the study of fish was subject to recurrent debates on subject, method and practitioner, and that such discussions were of both epistemological and social nature. In presenting their fish books, naturalists leveraged such discussions as to secure a place for themselves in the capricious environment of early modern natural history. Show less
The growth of unruptured intracranial aneurysms (UIAs) is a strong predictor of rupture. Clinical obser-vations suggest that some UIAs might grow faster after endovascular treatment than untreated... Show moreThe growth of unruptured intracranial aneurysms (UIAs) is a strong predictor of rupture. Clinical obser-vations suggest that some UIAs might grow faster after endovascular treatment than untreated UIAs. There are no head-to-head comparisons of incidence rates of UIAs thus far. Methods: We searched PubMed, Embase and Google Scholar for relevant articles from the inception of the databases to March 2020. We pooled and compared the incidence rates for the growth of aneurysms from natural history studies and endovascular treatment studies. Generalized linear models were used for con-founder adjustment for the prespecified confounders age, size and location. Results: Twenty-five studies (10 describing growth in natural history and 15 reporting growth after endovascular therapy) considering 6325 aneurysms were included in the meta-analysis. The median size of aneurysms was 3.7 mm in the natural history studies and 6.4 mm in endovascular treatment studies (p = 0.001). The pooled incidence rate (IR) of growth was significantly higher in endovascular treatment studies (IR 52 per 1000 person-years, with a 95% confidence interval (CI) 36-79) compared to natural his-tory studies (IR 28 per 1000 person-years, 95% CI 17 - 46, p-value < 0.01) after adjustment for con-founders. Conclusion: Our results suggest that the incidence rate of cerebral aneurysm growth might be higher after endovascular therapy than the incidence rates reported in natural history studies. These results should be viewed in light of the risk of bias of the individual studies and the risk of ecological bias. (c) 2021 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). Show less
Natural history collections provide invaluable sources for researchers with different disciplinary backgrounds, aspiring to study the geographical distribution of flora and fauna across the globe... Show moreNatural history collections provide invaluable sources for researchers with different disciplinary backgrounds, aspiring to study the geographical distribution of flora and fauna across the globe as well as other evolutionary processes. They are of paramount importance for mapping out long-term changes: from culture, to ecology, to how natural history is practiced.This thesis describes computational methods for knowledge extraction from archives of natural history collections---here referring to handwritten manuscripts and hand-drawn illustrations. As we are dealing with heterogeneous real-world data, the task becomes exceptionally challenging. Small samples and a long-tailed distribution, sometimes with very fine-grained distinctions between classes, hamper model learning. Prior knowledge is therefore needed to bootstrap the learning process. Moreover, archival content can be difficult to interpret and integrate, and should therefore be formally described for data integration within and across collections. By serving extracted knowledge to the Semantic Web, collections are made amenable for research and integration with other biodiversity resources on the Web. Show less
The dissertation focuses on the work of German philosophers Theodor W. Adorno and Max Horkheimer, founders of critical theory at the Frankfurt School. Specifically, it is a study of the “early”... Show moreThe dissertation focuses on the work of German philosophers Theodor W. Adorno and Max Horkheimer, founders of critical theory at the Frankfurt School. Specifically, it is a study of the “early” writings, dated between 1925 and 1940, to reconstruct the early stages of critical theory. The thesis argues that the critique of metaphysics is the philosophical project of critical theory. This argument is sustained by reconstructing this new materialism through the emergence of the concepts of history and society, human and nature, memory and suffering, domination and emancipation as crucial elements in the theories of both authors. This reconstruction leads to the implications of philosophical materialism into the development of the social theory and political philosophy of both authors. This perspective argues for throughout this study and defines the central themes that guided this materialism until the critical theory was postulated as an established research program. Show less
The Fourth Dutch-Anglo War (1780-1784) weakened the Dutch East India Company so much that it turned for financial and military support to the highest political institution in the Dutch Republic:... Show moreThe Fourth Dutch-Anglo War (1780-1784) weakened the Dutch East India Company so much that it turned for financial and military support to the highest political institution in the Dutch Republic: the States General. It was decided that an independent Military Commission should carry out a thorough military investigation of the Dutch overseas possessions. The Prussian-born military engineer Carl Friedrich Reimer became a member of this Commission. He kept a diary of the journey for his superiors in Batavia. An extract of this diary is preserved at the National Archives of The Netherlands. It is a valuable source since it contains not only observations on the primary activities of the Military Commission, but also of many remarkable occurrences during the trip. The manuscript includes reflections on the size and origins of Hindu monuments on Java, remarks on the use of locally cultivated gambir at Riau (Tanjung Pinang), espionage activities during a visit to Madras (Chennai), where the English fortifications were observed and the crops in the botanical garden of EIC-surgeon James Anderson were discussed. Reimer even added his personal thoughts about slavery in the diary, reasoning why, in his opinion, many Javanese were unfit as slaves, describing them as «children of nature». These subjects had little to do with the main tasks of the Military Commission. Yet, C.F. Reimer gathered all this information for his superiors to judge on its «usefulness». Also, there are indications that he may have wanted to publish some of his findings. This paper will highlight some extracts from the diary and discuss the reasons behind this kind of intelligence gathering, the choice of keeping a diary, and the possible reasons why this manuscript, and its content, remained unknown. Show less
This study investigates the development between 1550 to 1630 of Southern Netherlandish animal imagery into an autonomous genre in relation to developments in natural history, networks of artists... Show moreThis study investigates the development between 1550 to 1630 of Southern Netherlandish animal imagery into an autonomous genre in relation to developments in natural history, networks of artists and scientists and elite collecting practices in order to gain insight into the production, function, and meaning of animal imagery. Before 1600 in Antwerp motifs circulated by means of an extensive network, through which animal drawings and print series flourished. Around 1600 in Prague a new medium blossomed: the exotic animal painting. With the new medium it appears that the circulation of motifs diminished and no new print series were published. Artists started studying animals from life in meangeries and naturalia collctions. The relation of the artworks to natural history also changed. Before 1600 artists copied motifs from illustrations in natural historical publications and paid much attentio to the order of the species. After 1600 artists strove to depict species that were not yet described and illustrated by natural historians and consequently contributed to and disseminated knowledge about these new species. Show less
In this thesis research is presented about the progressive muscle diseases Duchenne and Becker muscular dystrophy, two hereditary muscle diseases caused by a mutation in the gene coding for... Show moreIn this thesis research is presented about the progressive muscle diseases Duchenne and Becker muscular dystrophy, two hereditary muscle diseases caused by a mutation in the gene coding for dystrophin, a protein involved in muscle membrane stability. The first part describes the disease course of both diseases. It evaluates the effect of developments in care of Duchenne patients, improving age at wheelchair dependence and survival. Data are presented about the relatively mild disease course of selected Becker patients with a mutation that would be the result of exon skipping in a Duchenne patient, illustrating the possible result of this therapeutic approach. The second part of this thesis focusses on research into factors involved in disease variability. Data are presented regarding the role of dystrophin quantity in disease severity in Becker patients, showing no linear relationship. Expression of several dystrophin associated proteins is shown not to influence disease course either. Contrarily, a single nucleotide polymorphism in the LTBP4 gene involved in fibrosis and muscle regeneration is shown to influence disease severity. Lastly, a disease severity scale for Becker patients is presented in this thesis, enabling a better comparison of individual patients for the purpose of scientific research. Show less