Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia... Show moreAlbinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic forms of albinism (Hermansky-Pudlak (HPS) and Chediak-Higashi syndrome (CHS)). We put forward that specific melanosome impairments cause different forms of oculocutaneous albinism (OCA1-8). Further, we incorporate GPR143 that has been implicated in ocular albinism (OA1), characterised by a phenotype limited to the eye. Finally, we include the SLC38A8-associated disorder FHONDA that causes an even more restricted "albinismrelated" ocular phenotype with foveal hypoplasia and chiasmal misrouting but without pigmentation defects. We propose the following retinal pigmentation pathway, with increasingly specific genetic and cellular defects causing an increasingly specific ocular phenotype: (HPS1-11/CHS: syndromic forms of albinism)-(OCA1-8: OCA)(GPR143: OA1)-(SLC38A8: FHONDA). Beyond disease genes involvement, we also evaluate a range of (candidate) regulatory and signalling mechanisms affecting the activity of the pathway in retinal development, retinal pigmentation and albinism. We further suggest that the proposed pigmentation pathway is also involved in other retinal disorders, such as age-related macular degeneration. The hypotheses put forward in this report provide a framework for further systematic studies in albinism and melanin pigmentation disorders. Show less
Groot, P.J.; Bloemen, S.; Vreeswijk, P.M.; Jonker, P.G.; Pieterse, D.; Engels, A.; ... ; Le Poole, R. 2022
Objective To assess the availability of an institutional-level respectful maternity care (RMC) index, its components, and associated factors.Methods A cross-sectional study design was applied to a... Show moreObjective To assess the availability of an institutional-level respectful maternity care (RMC) index, its components, and associated factors.Methods A cross-sectional study design was applied to a 2016 census of 3804 health facilities in Ethiopia. The availability of an institutional-level RMC index was computed as the availability of all nine items identified as important aspects of institutional-level RMC during childbirth. Logistic regression analysis was used to identify factors associated with availability of the index.Results Three components of the institutional-level RMC index were identified: "RMC policy," "RMC experience," and "facility for provision of RMC." Overall, 28% of facilities (hospitals, 29.9%; health centers, 27.8%) reported availability of the institutional-level RMC index. Facility location urbanization (urban region), percentage of maternal and newborn health workers trained in basic emergency obstetric and newborn care, and availability of maternity waiting homes in health facilities were positively associated with availability of the institutional-level RMC index.Conclusion Only one in three facilities reported availability of the institutional-level RMC index. The Ethiopian government should consider strengthening support mechanisms in different administrative regions (urban, pastoralist, and agrarian), implementing the provision training for health workers that incorporates RMC components, and increasing the availability of maternity waiting homes. Show less
Yilmaz, D.; Schalij, M.; Erven, L. van; Bakker, R. 2017
INTRODUCTION: Acute mesenteric lymphadenitis in children has a clinical presentation very similar to that of acute appendicitis. The aim of this study was to evaluate whether it is possible to... Show moreINTRODUCTION: Acute mesenteric lymphadenitis in children has a clinical presentation very similar to that of acute appendicitis. The aim of this study was to evaluate whether it is possible to clinically differentiate between acute appendicitis and acute mesenteric lymphadenitis in children. METHODS: A prospective cohort analysis was performed for all children (<17 years) presenting to the emergency department of our institution with acute abdominal pain between June 2005 and July 2006. The relevant clinical parameters, clinical and radiological diagnoses and all management decisions were scored prospectively. Ultrasound was the primary imaging modality for the majority of patients. All patients were re-evaluated until a final diagnosis was attained. The Alvarado score was calculated retrospectively, and a logistic regression model was used to analyze the diagnostic potential of clinical parameters. RESULTS: 289 patients were eligible for analysis. 38 patients had acute mesenteric lymphadenitis, and 69 patients had acute appendicitis as a final diagnosis. The positive predictive values of the clinical diagnosis, the Alvarado score and the logistic regression model were 0.62, 0.81 and 0.79 respectively. Ultrasound had a positive predictive value of 96% for acute appendicitis. CONCLUSION: It is not possible to accurately distinguish acute mesenteric lymphadenitis from acute appendicitis in children using clinical evaluation alone. Ultrasound should be performed in equivocal cases. Show less
Het proefschrift behandelt het leven van Pieter van Woensel (1747-1808), zijn reis naar het Ottomaanse Rijk en Rusland in de periode 1784-1789 en de boeken die hij hierover schreef. Van Woensel... Show moreHet proefschrift behandelt het leven van Pieter van Woensel (1747-1808), zijn reis naar het Ottomaanse Rijk en Rusland in de periode 1784-1789 en de boeken die hij hierover schreef. Van Woensel verbleef langdurig in het buitenland, was een uitgesproken non-conformist en vrijdenker. In tegenstelling tot vrijwel al zijn tijdgenoten waardeerde hij het enige land in Europa dat werd bestuurd op basis van islamitische wetgeving – het Ottomaanse Rijk – positief. Volgens de alom geaccepteerde theorie van het oosterse despotisme had dit rijk een dictatoriaal bestuur, zonder wetgeving, met geen enkel respect voor privé-bezit en werden de onderdanen van de sultan geregeerd op basis van terreur. Van Woensel weerlegde deze misvattingen op basis van de waarnemingen op zijn reis, en het gebruik van moderne bronnen en methodieken, zoals de Statistik (statenkunde), een nieuwe hulpwetenschap uit Duitsland. Vanwege de afwijkende opvattingen, maar ook door de provocerende stijl, werd zijn boek Aanteekeningen, gehouden op eene reize door Turkijen, Natoliën, de Krim en Rusland, in de jaaren 1784-1789 door critici afgewezen. Hoewel neerlandici het boek rekenen tot de Nederlandse literatuur, behoort het eerder tot de beginfase van de antropologie in Nederland Show less
Genderen, A.M. van; Windhorst, R.A.; Driel, W. van; Bakker, R.; Wesselink, T.J.H.; Hammerschlag-Hensberge, G. 1981
