Comparison between EQ-5D-5L and PROMIS-10 to evaluate health-related quality of life 3 months after stroke:a cross-sectional multicenter study

BACKGROUND: Although the use of patient-reported outcome measures to assess Health-Related Quality of Life (HRQoL) has been advocated, it is still open to debate which patient-reported outcome measure should be preferred to evaluate HRQoL after stroke.AIM: To compare the measurement properties (including concurrent validity and discriminant ability) between the 5-dimensional 5-level Euro-Qol (EQ-5D-5L) and the Patient-Reported Outcomes Measurement Information System 10-Question Global Health Short Form (PROMIS-10) to evaluate HRQoL 3 months after stroke.DESIGN: Cross-sectional study.SETTING: Neurology outpatient clinics in 6 Dutch hospitals.POPULATION: The participants 360 consecutive individuals with stroke. Their median age was 71 years, 143 (39.7%) were female and 335 (93.0%) had suffered an ischemic stroke.METHODS: The EQ-5D-5L, PROMIS-10, modified Rankin Scale and two items on experienced decrease in health and activities post-stroke were administered by a stroke nurse or nurse practitioner through a telephone interview 3 months after stroke. The internal consistency, distribution, floor/ceiling effects, inter-correlations and discriminant ability (using the modified Rankin Scale and experienced decrease in health and in activities post-stroke as external anchors) were calculated for both the EQ-5D-5L and PROMIS-10.RESULTS: Ninety-six percent of the participants were living at home and 50.9% experienced minimal or no disabilities (modified Rankin Scale 0-1) 3 months after stroke. A ceiling effect and a non-normal left skewed distribution were observed in the EQ-5D-5L. The PROMIS-10 showed higher internal consistency (alpha=0.90) compared to the EQ-5D-5L (alpha=0.75). Both the EQ-5D-5L and the PROMIS-10 were strongly correlated with the modified Rankin Scale (r=0.62 and 0.60 respectively). The PROMIS-10 showed better discriminant ability in less affected individuals with stroke, whereas the EQ-5D-5L showed slightly better discriminant ability in more affected individuals with stroke.CONCLUSIONS: Both EQ-5D-5L and PROMIS-10 prove to be useful instruments to evaluate HRQoL in patients who are living at home 3 months after stroke.CLINICAL REHABILITATION IMPACT: The clinical rehabilitation impact depended on the setting and underlying goal which patient-reported outcome measure is preferred to evaluate HRQoL 3 months after stroke. The PROMIS-10 should be preferred to detect differences in less affected stroke patients, whereas the EQ-5D-5L provides slightly more information in more affected stroke patients.Paroxysmal Cerebral Disorder

Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P&lt;0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.</p

Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P&lt;0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.</p

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

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Improvement in activities of daily living after visual training in patients with homonymous visual field defects using Goal Attainment Scaling

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Case series of patients treated with the oral fluoropyrimidine S-1 after capecitabine-induced coronary artery vasospasm

Fluoropyrimidines are widely used in cancer therapy for various solid tumours. Cardiotoxicity is an infrequent but relevant fluoropyrimidine-related toxicity, with a reported incidence in larger studies between 1.2% and 5.9% [1,2]. Its symptoms can be serious and often necessitate treatment discontinuation, thereby compromising the outcome of treatment. The most well-known fluoropyrimidine-related cardiotoxicity is coronary artery vasospasm, which is characterised by intermitting angina-like chest pain. This is observed during intravenous infusion of 5-fluorouracil (5-FU) and oral capecitabine administration. To date, re-challenging fluoropyrimidines has been considered unattractive in view of the high rates of recurrent symptoms [3,4]. The oral fluoropyrimidine S-1 may be promising in this respect, since S-1 results in significantly lower serum concentrations of cardiotoxic 5-FU-metabolites compared to other fluoropyrimidines [5]. Moreover, to date no cases of cardiotoxicity upon treatment with S-1 have been reported in clinical trials. In this case series, we present 7 patients who switched to S-1 after capecitabine-induced coronary vasospasm

CD20 deficiency in humans results in impaired T cell–independent antibody responses

CD20 was the first B cell differentiation antigen identified, and CD20-specific mAbs are commonly used for the treatment of B cell malignancies and autoantibody-mediated autoimmune diseases. Despite this the role of CD20 in human B cell physiology has remained elusive. We describe here a juvenile patient with CD20 deficiency due to a homozygous mutation in a splice junction of the CD20 gene (also known as MS4A1) that results in “cryptic” splicing and nonfunctional mRNA species. Analysis of this patient has led us to conclude that CD20 has a central role in the generation of T cell–independent (TI) antibody responses. Key evidence to support this conclusion was provided by the observation that although antigen-independent B cells developed normally in the absence of CD20 expression, antibody formation, particularly after vaccination with TI antigens, was strongly impaired in the patient. Consistent with this, TI antipolysaccharide B cell responses were severely impeded in CD20-deficient mice. Our study therefore identifies what we believe to be a novel type of humoral immunodeficiency caused by CD20 deficiency and characterized by normal development of antigen-independent B cells, along with a reduced capacity to mount proper antibody responses