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Afshin Shirkani, Mohammad Shahrooei, Gholamreza Azizi, Hassan Rokni-Zadeh, Hassan Abolhassani, Shokrollah Farrokhi, Glynis Frans, Xavier Bossuyt, Asghar Aghamohammadi
ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response...
October 19, 2016: Immunological Investigations
Piotr Ponikowski, Adriaan A Voors, Stefan D Anker, Héctor Bueno, John G F Cleland, Andrew J S Coats, Volkmar Falk, José Ramón González-Juanatey, Veli-Pekka Harjola, Ewa A Jankowska, Mariell Jessup, Cecilia Linde, Petros Nihoyannopoulos, John T Parissis, Burkert Pieske, Jillian P Riley, Giuseppe M C Rosano, Luis M Ruilope, Frank Ruschitzka, Frans H Rutten, Peter van der Meer
No abstract text is available yet for this article.
2016: Kardiologia Polska
Laura Casas, Fran Saborido-Rey, Taewoo Ryu, Craig Michell, Timothy Ravasi, Xabier Irigoien
Sequential hermaphroditism is a unique reproductive strategy among teleosts that is displayed mainly in fish species living in the coral reef environment. The reproductive biology of hermaphrodites has long been intriguing; however, very little is known about the molecular pathways underlying their sex change. Here, we provide the first de novo transcriptome analyses of a hermaphrodite teleost´s undergoing sex change in its natural environment. Our study has examined relative gene expression across multiple groups-rather than just two contrasting conditions- and has allowed us to explore the differential expression patterns throughout the whole process...
October 17, 2016: Scientific Reports
Annette van Maanen, Anne Marie Meijer, Marcel G Smits, Kristiaan B van der Heijden, Frans J Oort
STUDY OBJECTIVES: Chronic sleep onset insomnia with late melatonin onset is prevalent in childhood, and has negative daytime consequences. Melatonin treatment is known to be effective in treating these sleep problems. Bright light therapy might be an alternative treatment, with potential advantages over melatonin treatment. In this study, we compare the effects of melatonin and bright light treatment with a placebo condition in children with chronic sleep onset insomnia and late melatonin onset...
October 10, 2016: Sleep
Paramasivam Murugan, Lizhu Han, Chee-Yuen Gan, Frans H J Maurer, Kumar Sudesh
Bacterial polyhydroxyalkanoates (PHA) are expensive partly due to the recovery and purification processes. Thus, many studies have been carried out in order to minimize the cost. Here we report on the use of mealworm, which is the larva of mealworm beetle (Tenebrio molitor) to recover PHA granules from Cupriavidus necator. Mealworms were shown to readily consume the freeze-dried C. necator cells and excrete the PHA granules in the form of whitish feces. Further purification using water, detergent and heat resulted in almost 100% pure PHA granules...
October 13, 2016: Journal of Biotechnology
Daisy Walter, Petra G A van Boeckel, Marcel J M Groenen, Bas L A M Weusten, Ben J Witteman, Gi Tan, Menno A Brink, Jan Nicolai, Adriaan C Tan, Joyce Alderliesten, Niels G Venneman, Wim Laleman, Jeroen M Jansen, Alexander Bodelier, Frank L Wolters, Laurens A van der Waaij, Ronald Breumelhof, Frans T M Peters, Robbert C H Scheffer, Ewout W Steyerberg, Anne M May, Max Leenders, Meike M C Hirdes, Frank P Vleggaar, Peter D Siersema
OBJECTIVE: For palliation of extrahepatic bile duct obstruction, self-expandable metal stents (SEMS) are superior to plastic stents in terms of stent patency and occurrence of stent dysfunction. We assessed health-related quality of life (HRQoL) after stent placement to investigate whether this also results in a difference in HRQoL between patients treated with a plastic stent or SEMS. PATIENTS AND METHODS: This randomized multicenter trial included 219 patients who were randomized to receive plastic stent (n=73) or SEMS [uncovered (n=75) and covered (n=71); n=146] placement...
October 12, 2016: European Journal of Gastroenterology & Hepatology
Archie de Ceuninck van Capelle, Leo H Visser, Frans Vosman
Introduction: In this study the authors explored how people with recently diagnosed multiple sclerosis (MS) experience their disease within their family lives. Ten people in various stages of the cycle of family life (leaving home, finding a partner, raising children, parenting adolescents, launching children) who had been diagnosed with MS were interviewed in half-structured conversational interviews. Method: Transcriptions were analyzed following a phenomenological approach. Results: Five themes were found: (a) dwindling capacity for housekeeping and childcare (b) struggling to ask for or to accept help, (c) countering awkward attitudes toward my illness, (d) suspecting family members of concealing their, and (e) watching family members wrestle with your illness...
August 15, 2016: Families, Systems & Health: the Journal of Collaborative Family Healthcare
Karen K Y Koo, Karen Choong, Deborah J Cook, Margaret Herridge, Anastasia Newman, Vincent Lo, Gordon Guyatt, Fran Priestap, Eileen Campbell, Karen E A Burns, FranÇois Lamontagne, Maureen O Meade
BACKGROUND: The promotion of early mobilization following critical illness is tempered by national reports of patient and institutional barriers to this approach. We carried out a survey to assess current knowledge, perceptions and practices of Canadian physicians and physiotherapists with respect to acquired weakness and early mobilization in adults in the intensive care unit (ICU). METHODS: We conducted a cross-sectional, self-administered postal survey among critical care physicians and physiotherapists in all 46 academic ICUs in Canada in 2011-2012...
July 2016: CMAJ Open
Jason Gavin, Fran Quilty, Ferenc Majer, Georgina Gilsenan, Anne Marie Byrne, Aideen Long, Gabor Radics, John F Gilmer
Tauroursodeoxycholic acid (TUDCA) is a cytoprotective ER stress inhibitor and chemical chaperone. It has therapeutic potential in a wide array of diseases but a specific macromolecular target or molecular mechanism of action remains obscure. This Letter describes an effective new synthetic approach to taurine conjugation of bile acids which we used to prepare 3α-dansyl TUDCA (4) as a probe for TUDCA actions. As a model of ER stress we used the hepatocarcinoma cell line HUH7 and stimulation with either deoxycholic acid (DCA, 200μM) or tunicamycin (5μg/ml) and measured levels of Bip/GRP78, ATF4, CHOP and XBP1s/XBP1u...
June 23, 2016: Bioorganic & Medicinal Chemistry Letters
Cornelis R van der Torren, Jessica S Suwandi, DaHae Lee, Ernst-Jan T van 't Wout, Gaby Duinkerken, Godelieve Swings, Arend Mulder, Frans H J Claas, Zhidong Ling, Pieter Gillard, Bart Keymeulen, Peter In 't Veld, Bart O Roep
Transplantation of islet allografts into type 1 diabetic recipients usually requires multiple pancreas donors to achieve insulin independence. This adds to the challenges of immunological monitoring of islet transplantation currently relying on surrogate immune markers in peripheral blood. We investigated donor origin and infiltration of islets transplanted in the liver of a T1D patient who died of hemorrhagic stroke four months after successful transplantation with two intraportal islet grafts combining six donors...
October 10, 2016: Cell Transplantation
Jamie Bryant, Rob Sanson-Fisher, Elizabeth Fradgley, Breanne Hobden, Alison Zucca, Frans Henskens, Andrew Searles, Brad Webb, Christopher Oldmeadow
BACKGROUND: Population-based registries are increasingly used to recruit patient samples for research, however, they have several limitations including low consent and participation rates, and potential selection bias. To improve access to samples for research, the utility of a new model of recruitment termed the 'Consumer Register', that allows for direct patient recruitment from hospitals, was examined. This paper reports: (i) consent rates onto the register; (ii) preferred methods and frequency of contact; and (iii) the feasibility of establishing the register, including: (a) cost per person recruited to the register; (b) the differential cost and consent rates of volunteer versus paid data collectors; and (c) participant completion rates...
October 10, 2016: BMC Medical Research Methodology
Jonas Dewulf, Sabine Van Daele, Frans De Baets
Spontaneous pneumomediastinum in children is a very rare, benign entity. Recurrent episodes are exceptional. Identifying an underlying trigger is crucial, and very often, spontaneous pneumomediastinum occurs in association with an asthma exacerbation. We report the case of a patient in which we hypothesize that an underlying tracheomalacia can be held responsible for the recurrent pneumomediastinum, which is to this date the first case with this assumption. Pediatr Pulmonol. 2016; 9999:XX-XX. © 2016 Wiley Periodicals, Inc...
October 10, 2016: Pediatric Pulmonology
Willemijn J Jansen, Ron L H Handels, Pieter Jelle Visser, Pauline Aalten, Femke Bouwman, Jurgen Claassen, Peter van Domburg, Erik Hoff, Jan Hoogmoed, Albert F G Leentjens, Marcel Olde Rikkert, Ania M Oleksik, Machiel Smid, Philip Scheltens, Claire Wolfs, Frans Verhey, Inez H G B Ramakers
BACKGROUND: Neuropsychological testing has long been embedded in daily clinical practice at memory clinics but the added value of a complete neuropsychological assessment (NPA) to standard clinical evaluation is unknown. OBJECTIVE: To evaluate the added diagnostic and prognostic value of NPA to clinical evaluation only in memory clinic patients. METHODS: In 221 memory clinic patients of a prospective cohort study, clinical experts diagnosed clinical syndrome (subjective cognitive impairment (SCI), mild cognitive impairment (MCI), or dementia) and etiology (Alzheimer's disease (AD) or no AD), and provided a prognosis of disease course (decline or no decline) before and after results of NPA were made available...
October 4, 2016: Journal of Alzheimer's Disease: JAD
Maijke van Bloemendaal, Sicco A Bus, Charlotte E de Boer, Frans Nollet, Alexander C H Geurts, Anita Beelen
BACKGROUND: Many stroke survivors suffer from paresis of lower limb muscles, resulting in compensatory gait patterns characterised by asymmetries in spatial and temporal parameters and reduced walking capacity. Functional electrical stimulation has been used to improve walking capacity, but evidence is mostly limited to the orthotic effects of peroneal functional electrical stimulation in the chronic phase after stroke. The aim of this study is to investigate the therapeutic effects of up to 10 weeks of multi-channel functional electrical stimulation (MFES)-assisted gait training on the restoration of spatiotemporal gait symmetry and walking capacity in subacute stroke patients...
October 1, 2016: Trials
Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D P Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Stig E Bojesen, Børge G Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, Nbcs Investigators, Julian Peto, Isabel Dos Santos Silva, Fergus J Couch, Janet E Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K Schmutzler, Angela Cox, Simon S Cross, Elinor J Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John W M Martens, Peter A Fasching, Matthias W Beckmann, Irene L Andrulis, Julia A Knight, kConFab/Aocs Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G Giles, Roger L Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L Hopper, Melissa C Southey, Esther M John, Alice S Whittemore, Manjeet K Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F Easton, Marjanka K Schmidt, Heli Nevanlinna
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). METHODS: Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Maleeha Maria, Ideke J C Lamers, Miriam Schmidts, Muhammad Ajmal, Sulman Jaffar, Ehsan Ullah, Bilal Mustafa, Shakeel Ahmad, Katia Nazmutdinova, Bethan Hoskins, Erwin van Wijk, Linda Koster-Kamphuis, Muhammad Imran Khan, Phil L Beales, Frans P M Cremers, Ronald Roepman, Maleeha Azam, Heleen H Arts, Raheel Qamar
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome...
October 6, 2016: Scientific Reports
Lieke J J Klinkenberg, Karin Wildi, Noreen van der Linden, Imre W K Kouw, Marijke Niens, Raphael Twerenbold, Maria Rubini Gimenez, Christian Puelacher, Jean Daniel Neuhaus, Petra Hillinger, Thomas Nestelberger, Jasper Boeddinghaus, Karin Grimm, Zaid Sabti, Judith A P Bons, Jeroen D E van Suijlen, Frans E S Tan, Joop Ten Kate, Otto Bekers, Luc J C van Loon, Marja P van Dieijen-Visser, Christian Mueller, Steven J R Meex
BACKGROUND: Interpretation of serial high-sensitivity cardiac troponin (hs-cTn) measurements for the diagnosis of acute myocardial infarction (AMI) assumes random fluctuation of hs-cTn around an individual's homeostatic set point. The aim of this study was to challenge this diagnostic concept. METHODS: Study 1 examined the presence of a diurnal hs-cTn rhythm by hourly blood sampling, day and night, in 24 individuals without a recent history of AMI. Study 2 assessed morning vs evening diagnostic accuracy of hs-cTnT and hs-cTnI in a prospective multicenter diagnostic study of 2782 unselected patients, presenting to the emergency department with acute chest pain...
October 5, 2016: Clinical Chemistry
Carolien Zwiers, Irene T M Lindenburg, Frans J C M Klumper, Masja de Haas, Dick Oepkes, Inge L van Kamp
BACKGROUND: maternal alloimmunization to fetal red blood cell antigens is a major cause of fetal anemia, which in untreated cases can lead to hydrops and perinatal death. The cornerstone of the management during pregnancy is intrauterine intravascular blood transfusion. Although this procedure is considered to be relatively safe, (procedure-related) complications continue to occur. OBJECTIVES: to evaluate procedure-related complications and perinatal loss rates of intrauterine transfusion and changes over time, aiming to identify factors leading to improved outcome...
October 5, 2016: Ultrasound in Obstetrics & Gynecology
Dorian R A Swarts, Martina Rudelius, Sandra M H Claessen, Jack P Cleutjens, Stefan Seidl, Marco Volante, Frans C S Ramaekers, Ernst J M Speel
AIMS: Currently pulmonary carcinoids are separated into typical (TC) and atypical (AC) based on mitotic count and presence of necrosis, according to the WHO. At variance with gastroenteropancreatic neuroendocrine tumors, which are graded based on mitotic count and Ki-67 proliferative index, the use of Ki-67 for grading pulmonary carcinoids is still under debate. METHODS AND RESULTS: In this study we evaluated the prognostic impact of Ki-67 assessment in a multicenter cohort of 201 carcinoids (147 TCs, 54 ACs), using manual analysis (2000 cells counted) and digital image analysis (in-house Leica Qwin program; ≥ 4500 cells counted)...
October 4, 2016: Histopathology
Grissel Faura Tellez, Brigitte W M Willemse, Uilke Brouwer, Susan Nijboer-Brinksma, Karl Vandepoele, Jacobien A Noordhoek, Irene Heijink, Maaike de Vries, Natalie P Smithers, Dirkje S Postma, Wim Timens, Laura Wiffen, Frans van Roy, John W Holloway, Peter M Lackie, Martijn C Nawijn, Gerard H Koppelman
BACKGROUND: The asthma gene PCDH1 encodes Protocadherin-1, a putative adhesion molecule of unknown function expressed in the airway epithelium. Here, we characterize the localization, differential expression, homotypic adhesion specificity and function of PCDH1 in airway epithelial cells in asthma. METHODS: We performed confocal fluorescence microscopy to determine subcellular localization of PCDH1 in 16HBE cells and primary bronchial epithelial cells (PBECs) grown at air-liquid interface...
2016: PloS One
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