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11.
Daan J. aan de Kerk Ester M.M. van Leeuwen Machiel H. Jansen J. Merlijn van den Berg Marielle Alders Clementine L. Vermont René A.W. van Lier Steven T. Pals Taco W. Kuijpers 《Clinical immunology (Orlando, Fla.)》2013,149(1):25-31
Mutations in the DOCK8 gene define the most common form of autosomal-recessive Hyper-IgE-syndrome (AR-HIES/OMIM#243700). In a patient with extensive molluscum contagiosum lesions, a homozygous DOCK8 gene deletion was demonstrated. 相似文献
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13.
Ivan P.J. Huijnen Jeanine A. Verbunt Madelon L. Peters Philippe Delespaul Hanne P.J. Kindermans Jeffrey Roelofs Marielle Goossens Henk A.M. Seelen 《Pain》2010
Patients with chronic pain may have difficulties estimating their own physical activity level in daily life. Pain-related factors such as depression and pain intensity may affect a patients’ ability to estimate their own daily life activity level. This study evaluates whether patients with Chronic Low Back Pain (CLBP) who are more depressed and/or report more pain indeed have a lower objectively assessed daily life activity level or whether they only perceive their activity level as lower. Patients with CLBP were included in a cross-sectional study. During 14 days physical activity in daily life was measured, with both an electronic diary and an accelerometer. Multilevel analyses were performed to evaluate whether a higher level of depression and/or pain intensity was associated with a lower objectively assessed activity level or the discrepancy between the self-reported and objectively assessed daily life activity levels. Results, based on 66 patients with CLBP (mean RDQ score 11.8), showed that the objectively assessed daily life activity level is not associated with depression or pain intensity. There was a moderate association between the self-reported and objectively assessed activity levels (β = 0.39, p < 0.01). The discrepancy between the two was significantly and negatively related to depression (β = −0.19, p = 0.01), indicating that patients who had higher levels of depression judged their own activity level to be relatively low compared to their objectively assessed activity level. Pain intensity was not associated with the perception of a patient’s activity level (β = 0.12, ns). 相似文献
14.
Esther M. Wesselink MD Masieh Abawi MD PhD Nynke H. M. Kooistra MD PhD Teus H. Kappen MD PhD Pierfrancesco Agostoni MD PhD Marielle Emmelot-Vonk MD PhD Wietze Pasma PhD Wilton A. van Klei MD PhD Romy C. van Jaarsveld MSc Charlotte S. van Dongen MSc Pieter A. F. M. Doevendans MD PhD Arjen J. C. Slooter MD PhD Pieter R. Stella MD PhD 《Journal of the American Geriatrics Society》2021,69(11):3177-3185
15.
Rune Frandsen Miki Nikolic Marielle Zoetmulder Lykke Kempfner Poul Jennum 《Journal of sleep research》2015,24(5):583-590
Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by dream enactment and REM sleep without atonia. Atonia is evaluated on the basis of visual criteria, but there is a need for more objective, quantitative measurements. We aimed to define and optimize a method for establishing baseline and all other parameters in automatic quantifying submental motor activity during REM sleep. We analysed the electromyographic activity of the submental muscle in polysomnographs of 29 patients with idiopathic RBD (iRBD), 29 controls and 43 Parkinson's (PD) patients. Six adjustable parameters for motor activity were defined. Motor activity was detected and quantified automatically. The optimal parameters for separating RBD patients from controls were investigated by identifying the greatest area under the receiver operating curve from a total of 648 possible combinations. The optimal parameters were validated on PD patients. Automatic baseline estimation improved characterization of atonia during REM sleep, as it eliminates inter/intra‐observer variability and can be standardized across diagnostic centres. We found an optimized method for quantifying motor activity during REM sleep. The method was stable and can be used to differentiate RBD from controls and to quantify motor activity during REM sleep in patients with neurodegeneration. No control had more than 30% of REM sleep with increased motor activity; patients with known RBD had as low activity as 4.5%. We developed and applied a sensitive, quantitative, automatic algorithm to evaluate loss of atonia in RBD patients. 相似文献
16.
Dieleman JP Sturkenboom MC Jambroes M Gyssens IC Weverling GJ ten Veen JH Schrey G Reiss P Stricker BH;Athena Study Group 《Archives of internal medicine》2002,162(13):1493-1501
BACKGROUND: Nephrolithiasis is a well-known complication of indinavir treatment and may result in urological symptoms ranging from renal colic to renal insufficiency. OBJECTIVE: To obtain further knowledge regarding the incidence and risk factors of urological symptoms associated with indinavir sulfate use. METHODS: This study was performed in the ATHENA (AIDS Therapy Evaluation National AIDS Therapy Evaluation Centre) cohort of patients infected with human immunodeficiency virus (HIV) receiving antiretroviral therapy in the Netherlands. The incidence rate of urological symptoms was assessed in a subcohort of 1219 patients starting HIV protease inhibitor treatment after 1996. Urological symptoms were defined as an initial report of nephrolithiasis, renal colic, flank pain, hematuria, renal insufficiency, or nephropathy. Using multivariate Cox regression analysis, risk factors for urological symptoms during indinavir treatment were subsequently studied among the subset of 644 patients who started indinavir treatment after 1996. RESULTS: The incidence of urological symptoms was 8.3 per 100 treatment-years for indinavir vs 0.8 per 100 treatment-years for other HIV protease inhibitors. Risk factors for urological symptoms during indinavir treatment were low weight (relative risk [RR], 2.1; 95% confidence interval [CI], 1.1-3.9), low lean body mass (RR, 1.7; 95% CI, 1.0-2.9), undetectable HIV-1 RNA when starting indinavir treatment (RR, 3.2; 95% CI, 1.5-6.0), prior treatment change because of intolerance (RR, 2.4; 95% CI, 1.2-5.1), indinavir regimens of 1000 mg or more twice daily (RR, 3.1; 95% CI, 1.3-8.2), and warm environmental temperatures (RR, 3.9; 95% CI, 1.7-8.8). Risk estimates were highest among patients with a low lean body mass. CONCLUSION: Increased alertness for urological symptoms is warranted for patients starting indinavir treatment, particularly among those with a low lean body mass, during indinavir regimens of 1000 mg or more twice daily, and in warm weather environments. 相似文献
17.
Bone marrow‐on‐a‐chip: Long‐term culture of human haematopoietic stem cells in a three‐dimensional microfluidic environment 下载免费PDF全文
Stefan Sieber Lorenz Wirth Nino Cavak Marielle Koenigsmark Uwe Marx Roland Lauster Mark Rosowski 《Journal of tissue engineering and regenerative medicine》2018,12(2):479-489
Multipotent haematopoietic stem and progenitor cells (HSPCs) are the source for all blood cell types. The bone marrow stem cell niche in which the HSPCs are maintained is known to be vital for their maintenance. Unfortunately, to date, no in vitro model exists that accurately mimics the aspects of the bone marrow niche and simultaneously allows the long‐term culture of HSPCs. In this study, a novel three‐dimensional coculture model is presented, based on a hydroxyapatite coated zirconium oxide scaffold, comprising of human mesenchymal stromal cells (MSCs) and cord blood derived HSPCs, enabling successful HSPC culture for a time span of 28 days within the microfluidic multiorgan chip. The HSPCs were found to stay in their primitive state (CD34+CD38?) and capable of granulocyte, erythrocyte, macrophage, megakaryocyte colony formation. Furthermore, a microenvironment was formed bearing molecular and structural similarity to the in vivo bone marrow niche containing extracellular matrix and signalling molecules known to play an important role in HSPC homeostasis. Here, a novel human in vitro bone marrow model is presented for the first time, capable of long‐term culture of primitive HSPCs in a microfluidic environment. 相似文献
18.
Predictors of First‐Line Treatment Success in Children and Adolescents Visiting an Infusion Center for Acute Migraine 下载免费PDF全文
Serena L. Orr MD MSc FRCPC Marielle A. Kabbouche MD Paul S. Horn PhD Hope L. O'Brien MD FAHS FAAN Joanne Kacperski MD Susan LeCates MSN APRN CNP Shannon White DNP CNP Jessica Weberding MSN CNP Mimi N. Miller MSN APRN CNP Scott W. Powers PhD ABPP FAHS Andrew D. Hershey MD PhD FAHS 《Headache》2018,58(8):1194-1202
19.
Palcoux JB Atassi-Dumont M Lefevre P Hequet O Schlienger JL Brignon P Roussel B 《Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy》2008,12(3):195-201
Twenty-seven patients (14 girls, 13 boys) affected by familial hypercholesterolemia who had begun low-density lipoprotein (LDL) apheresis treatment before the age of 15 were studied. The median age at diagnosis was 4 years and the blood LDL cholesterol level was 704 +/- 163 mg/dL. Screening was performed for homozygous or double heterozygous mutations of the LDL cholesterol receptor gene and mutations were found in 24 of the patients. The mean age at the beginning of treatment was 8.5 years and the mean length of follow up was 12.6 years. The two main procedures used were direct adsorption of lipoproteins and dextran sulfate cellulose adsorption. Nine patients experienced anaphylactic reactions due to bradykinin and six had to have their treatment changed. The LDL cholesterol level before the session was lowered by 45 +/- 11% of the value at diagnosis. The LDL cholesterol reduction in a session was 72 +/- 10%. Tendinous xanthomas disappeared or diminished dramatically in 62% of the children. In 22 patients no cardiovascular event occurred during LDL apheresis treatment. Three had angina pectoris; two others had surgical management of aortic stenosis, but no clinical manifestations. Seven children had normal cardiovascular pictures while on treatment. Eleven had abnormalities of the aortic root or coronary arteries, which in six cases had appeared before treatment; the other five children did not undergo prior cardiac evaluation. In five children the abnormalities appeared during treatment. Based on these data, LDL-apheresis can be recommended for the treatment of homozygous familial hypercholesterolemia, even in young children, with good efficiency on biological parameters, cutaneous lesions and cardiovascular events. 相似文献
20.
Rogier Thomas Eberl Isabelle Moretto Florian Sixt Thibault Catherine François-Xavier Estève Clémentine Abdallahoui Maroua Behague Lucile Coussement Antoine Mathey Lucas Mahy Sophie Buisson Marielle Salmon-Rousseau Arnaud Duong Michel Chavanet Pascal Bernard Quentin Nicolas Barbara Benguella Leila Bonnotte Bernard Blot Mathieu Piroth Lionel 《European journal of clinical microbiology & infectious diseases》2021,40(9):2023-2028
European Journal of Clinical Microbiology & Infectious Diseases - During an epidemic period, we compared patients hospitalized for initial suspicion of COVID-19 but for whom an alternative... 相似文献