15 Works

Location specific risk factors for intracerebral hemorrhage: Systematic review and meta-analysis

Wilmar Jolink, Kim Wiegertjes, Gabriël Rinkel, Ale Algra, Frank-Erik De Leeuw & Karin Klijn
Objective To conduct a systematic review and meta-analysis of studies reporting on risk factors according to the location of the intracerebral hemorrhage. Methods We searched PubMed and Embase for cohort and case-control studies reporting on ≥100 patients with spontaneous intracerebral hemorrhage, that specified the location of the hematoma and reported associations with risk factors published until June 27th 2019. Two authors independently extracted data on risk factors. Estimates were pooled with the generic variance-based random...

A randomized clinical trial to compare P. falciparum gametocytaemia and infectivity following blood-stage or mosquito bite induced controlled malaria infection

Teun Bousema, Manon Alkema, Isaie Reuling, Gerdie De Jong, Kjerstin Lanke, Luc Coffeng, Geert-Jan Van Gemert, Marga Van De Vegte-Bolmer, Quirijn De Mast, Reinout Van Crevel, Christian Ockenhouse, Karen Ivinson, James McCarthy, Robert Sauerwein & Katharine Collins
For malaria elimination efforts, it is important to better understand parasite transmission to mosquitoes and to develop models to allow early clinical evaluation of transmission-blocking interventions. We previously described a Controlled Human Malaria Infection protocol for induction of gametocytemia in malaria naïve volunteers by mosquito bite (CHMI-trans) (Reuling et al., 2018). Here, we compared gametocyte production and infectivity in the CHMI-trans model after bites of Plasmodium falciparum (Pf)- infected mosquitoes to that after intravenous administration...

Data from: Identification of novel variants in LTBP2 and PXDN using whole-exome sequencing in developmental and congenital glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan & Anneke I. Den Hollander
Background Primary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and primary congenital glaucoma (PCG) with a recessive inheritance pattern. Methods DNA samples were obtained from consanguineous families of Pakistani ancestry. The CYP1B1 gene was sequenced in...

Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease

Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexander Tarnutzer, Marc Sturm, Tobias Haack, Nadège Vaucamps-Diedhiou, Helene Puccio, Ludger Schöls, Thomas Klockgether, Bart P. Van De Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp … & Matthis Synofzik
Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods: Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia. Results:...

Differentiating causes of febrile illness in Burkina Faso: data from an accuracy study comparing gold standard culture techniques with a haemocytometry based algorithm (IMS), procalcitonin (PCT) and C-reactive protein (CRP)

Annelies Post, Berenger Kaboré, André Van Der Ven & Quirijn De Mast
Different causes of acute febrile illness due to different infectious diseases (e.g. bacterial, viral malaria) may present with a similar clinical presentation. We performed a clinical diagnostic study to assess the diagnostic accuracy of a new tool - the Infection Manager System (IMS) - an algorithm which uses haemocytometric data to predict the cause of infection (e.g. bacterial, viral, malaria). The current dataset is a subset of data obtained during this study which was performed...

Anopheles stephensi mosquitoes as vectors of Plasmodium vivax and falciparum, Horn of Africa, 2019

Fitsum G. Tadesse, Temesgen Ashine, Hiwot Teka, Endashaw Esayas, Louisa A. Messenger, Wakweya Chali, Lisette Meerstein-Kessel, Thomas Walker, Sinknesh Wolde Behaksra, Kjerstin Lanke, Roel Heutink, Claire L. Jeffries, Daniel Abebe Mekonnen, Elifaged Hailemeskel, Surafel K. Tebeje, Temesgen Tafesse, Abrham Gashaw, Tizita Tsegaye, Tadele Emiru, Kigozi Simon, Eyuel Asemahegn Bogale, Gedeon Yohannes, Soriya Kedir, Girma Shumie, Senya Asfer Sabir … & Teun Bousema
An. stephensi, an efficient malaria vector in parts of Asia and Africa, was observed in 75.3% of water sources surveyed, and contributed to 80.9% of wild-caught Anopheles mosquitoes in Awash Sebat Kilo, Ethiopia. High susceptibility of these mosquitoes to Plasmodium falciparum and vivax infection presents a challenge for malaria control in the Horn of Africa. This study was conducted in Awash Sebat Kilo, Ethiopia, an area of perennial malaria transmission, from April to September 2019....

Data Supplements - N-of-1 trials in neurological disorders: Personalizing treatment

Bas Stunnenberg
Supplemental data including: Study details of each included N-of-1 trial that reported individual responses (on a pre-defined primary outcome measure) and post-trial treatment decisions (eTable 1); PubMed and Medline primary search strategy for N-of-1 trials in neurological disorders (eAppendix 1); More specified inclusion and exclusion criteria (eAppendix 2); eReferences (eReferences).

Plasmodium falciparum gametocyte density and infectivity in peripheral blood and skin tissue of naturally infected parasite carriers in Burkina Faso

Teun Bousema, Elamaran Meibalan, Aissata Barry, Matthew Gibbins, Shehu Awandu, Lisette Meerstein-Kessel, Fiona Achar, Selina Bopp, Christopher Moxon, Amidou Diarra, Siaka Debe, Nicolas Ouedraogo, Ines Barry-Some, Emilie Badoum, Traore Fagnima, Kjerstin Lanke, Bronner Goncalves, John Bradley, Dyann Wirth, Chris Drakeley, Wamdaogo Guelbeogo, Alfred Tiono, Matthias Marti, Matthew P Gibbins, Fiona Achcar … & Alfred B Tiono
Background Plasmodium falciparum transmission depends on mature gametocytes that can be ingested by mosquitoes taking a blood meal on human skin. Although gametocyte skin sequestration has long been hypothesized as important contributor to efficient malaria transmission, this has never been formally tested. Methods In naturally infected gametocyte carriers from Burkina Faso, we assessed infectivity to mosquitoes by direct skin feeding and membrane feeding. We directly quantified male and female gametocytes and asexual parasites in finger-prick...

Data from: The temporal dynamics and infectiousness of subpatent Plasmodium falciparum infections in relation to parasite density

Hannah C. Slater, Amanda Ross, Ingrid Felger, Natalie E. Hofmann, Leanne Robinson, Jackie Cook, Bronner P. Gonçalves, Anders Björkman, Andre Lin Ouedraogo, Ulrika Morris, Mwinyi Msellem, Cristian Koepfli, Ivo Mueller, Fitsum Tadesse, Endalamaw Gadisa, Smita Das, Gonzalo Domingo, Melissa Kapulu, Janet Midega, Seth Owusu-Agyei, Cécile Nabet, Renaud Piarroux, Ogobara Doumbo, Safiatou Niare Doumbo, Kwadwo Koram … & Lucy C. Okell
Malaria infections occurring below the limit of detection of standard diagnostics are common in all endemic settings. However, key questions remain surrounding their contribution to sustaining transmission and whether they need to be detected and targeted to achieve malaria elimination. In this study we analyse a range of malaria datasets to quantify the density, detectability, course of infection and infectiousness of subpatent infections. Asymptomatically infected individuals have lower parasite densities on average in low transmission...

Clinical features in X-linked myotubular myopathy carriers

Stacha Reumers, Frederik Braun, Jennifer Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke Van Der Kooi, Reghan Foley, Carsten Bönnemann, Erik-Jan Kamsteeg, Corrie Erasmus, Ulrike Schara-Schmidt, Heinz Jungbluth & Nicol Voermans
Objective: To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms and signs, as well as associated disease burden. Methods: We performed a cross-sectional online questionnaire study among XL-MTM carriers. Participants were recruited from patient associations, medical centers and registries in the United Kingdom, Germany and the Netherlands. We used a custom-made questionnaire, the Checklist Individual Strength (CIS), the Frenchay Activities Index (FAI),...

Data from: Nasopharyngeal microbiome profiles in rural Venezuelan children are associated with respiratory and gastrointestinal infections

Lilly M. Verhagen, Ismar A. Rivera-Olivero, Melanie Clerc, Mei Ling N. Chu, Jody Van Engelsdorp Gastelaars, Maartje I. Kristensen, Guy A. M. Berbers, Peter W. M. Hermans, Marien I. De Jonge, Jacobus H. De Waard & Debby Bogaert
Background: Recent research suggests that the microbiota affects susceptibility to both respiratory tract infections (RTIs) and gastrointestinal infections (GIIs). In order to optimize global treatment options, it is important to characterize microbiota profiles across different niches and geographic/socioeconomic areas where RTI and GII prevalences are high. Methods: We performed 16S sequencing of nasopharyngeal swabs from 209 Venezuelan Amerindian children aged 6 weeks–59 months who were participating in a 13-valent pneumococcal conjugate vaccine (PCV13) study. Using...

Supplemental data from: Global differences in risk factors, etiology and outcome of ischemic stroke in young adults

Mina Jacob & Frank-Erik De Leeuw
Objective: To study the global distribution of risk factors, causes and 3-month mortality of young ischemic stroke patients, by performing a patient data meta-analysis form different cohorts worldwide. Methods: We did a pooled analysis of individual patient data from cohort studies which included consecutive ischemic stroke patients aged 18-50 years. We studied differences in prevalence of risk factors and causes between different ethnic groups, geographic regions and countries with different income levels. We investigated differences...

Data from: Substantial contribution of submicroscopical Plasmodium falciparum gametocyte carriage to the infectious reservoir in an area of seasonal transmission.

André Lin Ouédraogo, Teun Bousema, Petra Schneider, Sake J. De Vlas, Edith Ilboudo-Sanogo, Nadine Cuzin-Ouattara, Issa Nébié, Will Roeffen, Jan Peter Verhave, Adrian J.F. Luty & Robert Sauerwein
Background: Man to mosquito transmission of malaria depends on the presence of the sexual stage parasites, gametocytes, that often circulate at low densities. Gametocyte densities below the microscopical threshold of detection may be sufficient to infect mosquitoes but the importance of submicroscopical gametocyte carriage in different transmission settings is unknown. Methodology/Principal Findings: Membrane feeding experiments were carried out on 80 children below 14 years of age at the end of the wet season in an...

Data from: Higher gametocyte production and mosquito infectivity in chronic compared to incident Plasmodium falciparum infections

Teun Bousema
Plasmodium falciparum gametocyte kinetics and infectivity may differ between chronic and incident infections. Children aged 5-10 years were recruited from an area of high malaria transmission in Burkina Faso into two cohorts: an incident cohort in which new infections were followed after parasite clearance (n=48), and a chronic cohort in which asymptomatic infections were identified and followed (n=60). Parasite kinetics were assessed daily with repeated mosquito feeding assays to quantify transmission potential. All participants were...

Data from: Relevance of heterokaryosis for adaptation and azole-resistance development in Aspergillus fumigatus

Jianhua Zhang, Eveline E. Snelders, Bas J. Zwaan, Sijmen E. Schoustra, Ed J. Kuijper, Maiken C. Arendrup, Willem J.G. Melchers, Paul E. Verweij, Alfons J.M. Debets & Alfons J. M. Debets
Aspergillus fumigatus causes a range of diseases in humans, some of which are characterized by fungal persistence. A. fumigatus, being a generalist saprotroph, may initially establish lung colonisation due to its physiological versatility and subsequently adapt through genetic changes to the human lung environment and antifungal treatments. Human lung-adapted genotypes can arise by spontaneous mutation and/or recombination and subsequent selection of the fittest genotypes. Sexual and asexual spores are considered crucial contributors to the genetic...

Registration Year

  • 2022
  • 2021
  • 2020
  • 2019
  • 2016
  • 2013

Resource Types

  • Dataset


  • Radboud University Nijmegen Medical Centre
  • London School of Hygiene & Tropical Medicine
  • Centre National de Recherche et de Formation sur le Paludisme
  • Institute of Genetics and Molecular and Cellular Biology
  • Erasmus University Medical Center
  • University of Edinburgh
  • Essen University Hospital
  • University Medical Center Utrecht
  • QIMR Berghofer Medical Research Institute
  • Noguchi Memorial Institute for Medical Research