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https://www.readbyqxmd.com/read/28448663/prame-as-a-potential-target-for-immunotherapy-in-metastatic-uveal-melanoma
#1
Gülçin Gezgin, Sietse J Luk, Jinfeng Cao, Mehmet Dogrusöz, Dirk M van der Steen, Renate S Hagedoorn, Daniëlle Krijgsman, Pieter A van der Velden, Matthew G Field, Gregorius P M Luyten, Karoly Szuhai, J William Harbour, Ekaterina S Jordanova, Mirjam H M Heemskerk, Martine J Jager
Importance: Uveal melanoma (UM) is an intraocular primary malignant neoplasm that often gives rise to metastatic disease for which there are no effective therapies. A substantial proportion of UMs express the cancer-testis antigen PRAME (preferentially expressed antigen in melanoma), which can potentially be targeted by adoptive T-cell therapy. Objective: To determine whether there may be a rationale for PRAME-directed T-cell therapy for metastatic UM. Design, Setting, and Participants: An experimental study using a retrospective cohort of 64 patients with UM (median follow-up, 62 months) was conducted from January 8, 2015, to November 20, 2016, at the Leiden University Medical Center...
April 27, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28440906/familial-longevity-is-characterized-by-high-circadian-rhythmicity-of-serum-cholesterol-in-healthy-elderly-individuals
#2
Rosa van den Berg, Raymond Noordam, Sander Kooijman, Steffy W M Jansen, Abimbola A Akintola, P Eline Slagboom, Hanno Pijl, Patrick C N Rensen, Nienke R Biermasz, Diana van Heemst
The biological clock, whose function deteriorates with increasing age, determines bodily circadian (i.e. 24h) rhythms, including that of cholesterol metabolism. Dampening of circadian rhythms has been associated with aging and disease. Therefore, we hypothesized that individuals with a familial predisposition for longevity have a higher amplitude circadian serum cholesterol concentration rhythm. The aim of this study was to investigate circadian rhythmicity of serum cholesterol concentrations in offspring of nonagenarian siblings and their partners...
April 2017: Aging Cell
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#3
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28422089/thermogenic-adipocytes-promote-hdl-turnover-and-reverse-cholesterol-transport
#4
Alexander Bartelt, Clara John, Nicola Schaltenberg, Jimmy F P Berbée, Anna Worthmann, M Lisa Cherradi, Christian Schlein, Julia Piepenburg, Mariëtte R Boon, Franz Rinninger, Markus Heine, Klaus Toedter, Andreas Niemeier, Stefan K Nilsson, Markus Fischer, Sander L Wijers, Wouter van Marken Lichtenbelt, Ludger Scheja, Patrick C N Rensen, Joerg Heeren
Brown and beige adipocytes combust nutrients for thermogenesis and through their metabolic activity decrease pro-atherogenic remnant lipoproteins in hyperlipidemic mice. However, whether the activation of thermogenic adipocytes affects the metabolism and anti-atherogenic properties of high-density lipoproteins (HDL) is unknown. Here, we report a reduction in atherosclerosis in response to pharmacological stimulation of thermogenesis linked to increased HDL levels in APOE*3-Leiden.CETP mice. Both cold-induced and pharmacological thermogenic activation enhances HDL remodelling, which is associated with specific lipidomic changes in mouse and human HDL...
April 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28420059/neuropsychiatric-symptoms-in-systemic-lupus-erythematosus-impact-on-quality-of-life
#5
R C Monahan, L J J Beaart-van de Voorde, G M Steup-Beekman, C Magro-Checa, T W J Huizinga, J Hoekman, A A Kaptein
Objective Assess quality of life in patients with systemic lupus erythematosus (SLE) presenting with neuropsychiatric symptoms (neuropsychiatric SLE, NPSLE). Methods Quality of life was assessed using the Short-Form 36 item Health Survey (SF-36) in patients visiting the Leiden NPSLE clinic at baseline and at follow-up. SF-36 subscales and summary scores were calculated and compared with quality of life of the general Dutch population and patients with other chronic diseases. Results At baseline, quality of life was assessed in 248 SLE patients, of whom 98 had NPSLE (39...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28411702/outcomes-of-iliac-vein-stents-after-pregnancy
#6
Mohini Dasari, Efthimios Avgerinos, Seshadri Raju, Robert Tahara, Rabih A Chaer
OBJECTIVE: Stenting is the first-line treatment for obstructive iliocaval lesions when intervention is required. The aim of the study was to evaluate iliocaval stent patency during and after pregnancy in women of reproductive age who became pregnant after stent placement. METHODS: Female patients of reproductive age (18-45 years old) who underwent iliocaval stenting between May 2007 and March 2014 were identified from a three-center prospectively maintained database...
May 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28405673/gly74ser-mutation-in-protein-c-causes-thrombosis-due-to-a-defect-in-protein-s-dependent-anticoagulant-function
#7
Changming Chen, Likui Yang, Bruno O Villoutreix, Xuefeng Wang, Qiulan Ding, Alireza R Rezaie
Protein C is a vitamin K-dependent serine protease zymogen in plasma which upon activation by thrombin in complex with thrombomodulin (TM) down-regulates the clotting cascade by a feedback loop inhibition mechanism. Activated protein C (APC) exerts its anticoagulant function through protein S-dependent degradation of factors Va and VIIIa. We recently identified a venous thrombosis patient whose plasma level of protein C antigen is normal, but its anticoagulant activity is only 34 % of the normal level. Genetic analysis revealed that the proband and her younger brother carry a novel heterozygous mutation c...
April 13, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28404093/somatic-pole-proofreading-domain-mutation-immune-response-and-prognosis-in-colorectal-cancer-a-retrospective-pooled-biomarker-study
#8
Enric Domingo, Luke Freeman-Mills, Emily Rayner, Mark Glaire, Sarah Briggs, Louis Vermeulen, Evelyn Fessler, Jan Paul Medema, Arnoud Boot, Hans Morreau, Tom van Wezel, Gerrit-Jan Liefers, Ragnhild A Lothe, Stine A Danielsen, Anita Sveen, Arild Nesbakken, Inti Zlobec, Alessandro Lugli, Viktor H Koelzer, Martin D Berger, Sergi Castellví-Bel, Jenifer Muñoz, Marco de Bruyn, Hans W Nijman, Marco Novelli, Kay Lawson, Dahmane Oukrif, Eleni Frangou, Peter Dutton, Sabine Tejpar, Mauro Delorenzi, Rachel Kerr, David Kerr, Ian Tomlinson, David N Church
BACKGROUND: Precision cancer medicine depends on defining distinct tumour subgroups using biomarkers that may occur at very modest frequencies. One such subgroup comprises patients with exceptionally mutated (ultramutated) cancers caused by mutations that impair DNA polymerase epsilon (POLE) proofreading. METHODS: We examined the association of POLE proofreading domain mutation with clinicopathological variables and immune response in colorectal cancers from clinical trials (VICTOR, QUASAR2, and PETACC-3) and colorectal cancer cohorts (Leiden University Medical Centre 1 and 2, Oslo 1 and 2, Bern, AMC-AJCC-II, and Epicolon-1)...
November 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28397442/predictive-factors-of-thrombosis-for-patients-with-essential-thrombocythaemia-a-single-center-study
#9
Iwona Prajs, Kazimierz Kuliczkowski
BACKGROUND: Thrombotembolic complications are the leading cause of mortality in essential thrombocythemia (ET), but the definition of thrombotic risk remains far from clear. OBJECTIVES: The aim of this study was to evaluate the prognostic markers for thrombosis to identify ET patients at risk. MATERIAL AND METHODS: Forty-five consecutive patients with ET were studied. This group was divided into two subgroups ET patients with (A) and without (B) history of thrombosis...
January 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28395787/testing-for-thrombophilia-in-mesenteric-venous-thrombosis-retrospective-original-study-and-systematic-review
#10
REVIEW
M Zarrouk, S Salim, J Elf, A Gottsäter, S Acosta
The aim was to perform a local study of risk factors and thrombophilia in mesenteric venous thrombosis (MVT), and to review the literature concerning thrombophilia testing in MVT. Patients hospitalized for surgical or medical treatment of MVT at our center 2000-2015. A systematic review of observational studies was performed. In the local study, the most frequently identified risk factor was Factor V Leiden mutation. The systematic review included 14 original studies. The highest pooled percentage of any inherited thrombophilic factor were: Factor V Leiden mutation 9% (CI 2...
February 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28395587/a-low-rate-of-factor-v-leiden-mutation-among-sudanese-women-with-deep-venous-thrombosis-during-pregnancy-and-puerperium
#11
Abass Awad-Elkareem, Salaheldein G Elzaki, Hanan Khalid, Mual S Abdallah, Ishag Adam
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28394225/outcomes-of-neuropsychiatric-events-in-systemic-lupus-erythematosus-based-on-clinical-phenotypes-prospective-data-from-the-leiden-np-sle-cohort
#12
C Magro-Checa, L J J Beaart-van de Voorde, H A M Middelkoop, M L Dane, N J van der Wee, M A van Buchem, T W J Huizinga, G M Steup-Beekman
Objective The objective of this study was to assess whether clinical and patient's reported outcomes are associated with a different pathophysiological origin of neuropsychiatric events presenting in systemic lupus erythematosus. Methods A total of 232 neuropsychiatric events presenting in 131 systemic lupus erythematosus patients were included. Neuropsychiatric systemic lupus erythematosus diagnosis was established per event by multidisciplinary evaluation. All neuropsychiatric events were divided according to a suspected underlying pathophysiological process into one of the following: non-neuropsychiatric systemic lupus erythematosus related, inflammatory and ischaemic neuropsychiatric systemic lupus erythematosus...
April 2017: Lupus
https://www.readbyqxmd.com/read/28390428/rivaroxaban-as-an-effective-alternative-to-warfarin-in-a-patient-with-atrial-fibrillation-thrombophilia-and-left-atrial-appendage-thrombus-a-case-report
#13
Michele Scarano, Matteo Casale, Cesare Mantini, Egidio Imbalzano, Cristiana Consorti, Daniela Clemente, Giuseppe Dattilo
BACKGROUND: Atrial fibrillation is the most common cardiac arrhythmia. It is responsible for up to 20% of all ischemic strokes. Rate control and anticoagulation are crucial for atrial fibrillation management and stroke prevention. CASE PRESENTATION: We present the case of an 84-year-old Italian woman with a left atrial appendage thrombus that developed despite her use of anticoagulant therapy with warfarin for a previous pulmonary embolism. She had atrial fibrillation and heterozygosity for both factor V Leiden and methylenetetrahydrofolate reductase C677T mutation, thus creating resistance to activated protein C...
April 9, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28382527/multiple-thrombophilia-mutations-as-a%C3%A2-possible-cause-of-premature-myocardial-infarction
#14
Gabriela Dostálová, Jan Bělohlávek, Zuzana Hlubocká, Kristýna Bayerová, Petra Bobčiková, Tomáš Kvasnička, Jan Kvasnička, Aleš Linhart, Debora Karetová
The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years...
April 5, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28361003/case-report-primary-osteonecrosis-associated-with-thrombophilia-hypofibrinolysis-and-worsened-by-testosterone-therapy
#15
Michael Ian Jarman, Kevin Lee, Ariel Kanevsky, Sarah Min, Ilana Schlam, Chris Mahida, Ali Huda, Alexander Milgrom, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Familial and acquired thrombophilia are often etiologic for idiopathic hip and jaw osteonecrosis (ON), and testosterone therapy (TT) can interact with thrombophilia, worsening ON. CASE PRESENTATION: Case 1: A 62-year-old Caucasian male (previous deep venous thrombosis), on warfarin 1 year for atrial fibrillation (AF), had non-specific right hip-abdominal pain for 2 years. CT scan revealed bilateral femoral head ON without collapse. Coagulation studies revealed Factor V Leiden (FVL) heterozygosity, 4G/4G plasminogen activator inhibitor (PAI) homozygosity, high anti-cardiolipin (ACLA) IgM antibodies, and endothelial nitric oxide (NO) synthase (eNOS) T786C homozygosity (reduced conversion of L-arginine to NO, required for bone health)...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28352625/inherited-thrombophilia-in-pediatric-venous-thromboembolic-disease-why-and-who-to-test
#16
REVIEW
C Heleen van Ommen, Ulrike Nowak-Göttl
Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than inherited thrombophilia in the development of thrombotic disease in children. The contributing role of inherited thrombophilia is not clear in many pediatric thrombotic events, especially catheter-related thrombosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28350849/science-deserves-to-be-judged-by-its-contents-not-by-its-wrapping-revisiting-seglen-s-work-on-journal-impact-and-research-evaluation
#17
Lin Zhang, Ronald Rousseau, Gunnar Sivertsen
The scientific foundation for the criticism on the use of the Journal Impact Factor (JIF) in evaluations of individual researchers and their publications was laid between 1989 and 1997 in a series of articles by Per O. Seglen. His basic work has since influenced initiatives such as the San Francisco Declaration on Research Assessment (DORA), the Leiden Manifesto for research metrics, and The Metric Tide review on the role of metrics in research assessment and management. Seglen studied the publications of only 16 senior biomedical scientists...
2017: PloS One
https://www.readbyqxmd.com/read/28348360/an-uncommon-case-of-lower-limb-deep-vein-thrombosis-with-multiple-etiological-causes
#18
Jing Miao, Geetha Naik, Sivakumar Muddana, Xiaohuan Li, Supriya Bhimasani, Ronald Alvin Mitchell, Dariush Alaie, Richard L Petrillo
BACKGROUND Deep vein thrombosis (DVT) is a type of venous thromboembolism with diverse clinical and environmental risk factors. Very few cases of DVT with multiple high risk factors have been reported. Here, we report an uncommon DVT case with multiple etiological causes, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and heterozygous factor V Leiden mutation. CASE REPORT A 43-year-old female was brought to the emergency room because of 2-week history of pain and swelling and ultrasound revealing evidence of DVT in the right leg...
March 28, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28340077/idiopathic-non-lupus-full-house-nephropathy-is-associated-with-poor-renal-outcome
#19
Emilie C Rijnink, Y K Onno Teng, Tineke Kraaij, Ron Wolterbeek, Jan A Bruijn, Ingeborg M Bajema
Background.: Full-house immunofluorescence in combination with various histopathologic lesions in the renal biopsies of patients without overt systemic lupus erythematosus (SLE) poses a diagnostic challenge. In this setting, the biopsy findings are sometimes termed non-lupus 'full-house nephropathy' (FHN). It is presently unknown whether idiopathic non-lupus FHN is clinicopathologically and prognostically distinct from lupus FHN. Methods.: We included non-lupus FHN patients and lupus FHN controls (four or more American College of Rheumatology or Systemic Lupus International Collaborating Clinics criteria) who were biopsied between 1968 and 2014 at the Leiden University Medical Centre...
April 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339952/value-of-multidisciplinary-reassessment-in-attribution-of-neuropsychiatric-events-to-systemic-lupus-erythematosus-prospective-data-from-the-leiden-npsle-cohort
#20
César Magro-Checa, Els J Zirkzee, Liesbeth J J Beaart-van de Voorde, Huub A Middelkoop, Nic J van der Wee, Menno V Huisman, Jeroen Eikenboom, Nyika D Kruyt, Mark A van Buchem, Tom W J Huizinga, Gerda M Steup-Beekman
Objective.: To determine the contribution of reassessment in the attribution process of neuropsychiatric (NP) events to SLE or other aetiologies in a large, prospective and multidisciplinary assessed NPSLE cohort and to compare these results with other available attribution models for NP events occurring in SLE. Methods.: Three hundred and four consecutive SLE patients presenting NP events were evaluated. All subjects underwent standardized multidisciplinary medical, neuropsychological, laboratory and radiological examination on the inclusion and reassessment dates...
February 28, 2017: Rheumatology
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