半鹹水魚簇ヲ中間宿主トスル吸蟲ニ就テ

Missingness of required data elements used to build the threshold and clinical action measure. (DOCX 17 kb

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

Background: The low-density lipoprotein receptor (LDLR) in the liver is the major determinant of LDL-cholesterol levels in human plasma. The discovery of genes that regulate the activity of LDLR helps to identify pathomechanisms of hypercholesterolemia and novel therapeutic targets against atherosclerotic cardiovascular disease.Methods: We performed a genome-wide RNA interference screen for genes limiting the uptake of fluorescent LDL into Huh-7 hepatocarcinoma cells. Top hit genes were validated by in vitro experiments as well as analyses of datasets on gene expression and variants in human populations.Results: The knockdown of 54 genes significantly inhibited LDL uptake. Fifteen of them encode for components or interactors of the U2-spliceosome. Knocking down any one of 11 out of 15 genes resulted in the selective retention of intron 3 of LDLR. The translated LDLR fragment lacks 88% of the full length LDLR and is detectable neither in non-transfected cells nor in human plasma. The hepatic expression of the intron 3 retention transcript is increased in non-alcoholic fatty liver disease as well as after bariatric surgery. Its expression in blood cells correlates with LDL-cholesterol and age. Single nucleotide polymorphisms and three rare variants of one spliceosome gene, RBM25, are associated with LDL-cholesterol in the population and familial hypercholesterolemia, respectively. Compared to overexpression of wild type RBM25, overexpression of the three rare RBM25 mutants in Huh-7 cells led to lower LDL uptake.Conclusions: We identified a novel mechanism of post-transcriptional regulation of LDLR activity in humans and associations of genetic variants of RBM25 with LDL-cholesterol levels.</p

Botulinum toxin type A injections in the psoas muscle of children with cerebral palsy: muscle atrophy after motor end plate-targeted injections

MEP targeting during BoNT-A injections has been demonstrated to improve outcome. Two injection techniques of the psoas muscle - proximal MEP targeting versus a widely used more distal injection technique - are compared using muscle volume assessment by digital MRI segmentation as outcome measure. METHOD: 7 spastic diplegic children received injections in both psoas muscles: two different injection techniques randomly in 5 patients, in 2 patients bilateral MEP targeting. MRI images of the psoas were taken before, after 2 months and in 3 patients after 6 months. RESULTS: Average post injection volume (in relation to pre-injection volume) for the MEP targeted muscles (9) is 79.5% versus 107.8% in the 5 distal injected psoas muscles (p=0.0033). In all 5 asymmetric injected patients the MEP targeted psoas had a larger volume reduction than the more distal injected psoas muscle. This atrophy remains even 6 months after the injection. This is the first study were a longitudinal follow-up by MRI demonstrates muscle atrophy after BoNT-A in children with CP. Injections in the MEP zone of the muscle, which is the more proximal part of the psoas muscle, cause atrophy in contrary to more distal injections were this atrophy is not observed.status: publishe

Patient-Reported Outcomes with Insulin Glargine 300 U/mL in People with Type 2 Diabetes: The MAGE Multicenter Observational Study.

peer reviewedINTRODUCTION: MAGE was a Multicenter, single-Arm, observational 6-month (plus 6-month extension) study that aimed to assess treatment satisfaction, efficacy, and safety of insulin Glargine 300 U/mL (Gla-300) in people with type 2 diabetes (T2DM) receiving basal-bolus insulin in a rEal-world setting. MATERIALS AND METHODS: Participants were at least 18 years old, with T2DM for more than 1 year, HbA(1c) 7.0-10.0%. The primary endpoint was change in Diabetes Treatment Satisfaction Questionnaire status version (DTSQs) total score (baseline to month 6). Secondary endpoints included reasons for starting Gla-300, changes in the DTSQ change version (DTSQc) total score, Hypoglycemia Fear Survey-II (HFS-II) total behavior and worry scores at months 6 and 12, HbA(1c) changes at months 3, 6, 9, and 12, and safety. RESULTS: MAGE included 87 adults (mean T2DM duration 17 years). The primary endpoint of DTSQs mean (standard deviation) total score improvement at month 6 was achieved (2.80 [5.46] points; p < 0.0001). The main reasons for Gla-300 initiation were to decrease HbA(1c) (89.7% of participants) and reduce the number of hypoglycemic events (35.6% of participants). Significant improvements were observed in the DTSQc total score and perceived hyperglycemia/hypoglycemia (baseline to month 6, p < 0.05). Significant changes in HFS-II behavior, worry, and total scores at 6 and 12 months were also observed (p < 0.05). There were no statistically significant changes in HbA(1c). Safety outcomes, including hypoglycemia, were comparable to previously reported trials. CONCLUSIONS: The MAGE study indicates that Gla-300, as part of a basal-bolus regimen, results in improved treatment satisfaction and reduced hypoglycemia fear in people with advanced T2DM

Networks as a tool to save energy while keeping up general user comfort in buildings

Devices, like Smartphones, tablets, notebooks, desktop computers, smart televisions are all connected to our home network. Analyzing the traffic on a network has already been widely studied in order to be able to detect anomalies in the network such as broken hardware, bad routing schemes or intrusions. We claim that network traffic analysis however can also bring forward valuable information about the users of that network. In this paper we demonstrate with a practical applications how we can save energy by analysing the usage on the network, as network activity informs us about the activity of the user. Copyright © 2013 by the IEEE.SCOPUS: cp.pinfo:eu-repo/semantics/publishe

Diagnostiquer l’hypercholestérolémie familiale chez un patient et les membres de sa famille

L’hypercholestérolémie familiale est une maladie génétique fréquente mais souvent sous-diagnostiquée. Elle est pourtant facile à prendre en charge à condition de la dépister suffisamment précocement et de la traiter de manière appropriée. Nous présentons quelques outils pour la diagnostiquer. Chez un premier patient d'une famille encore inexplorée (patient-index), on utilisera le score DLCN (Dutch Lipid Clinic Network), suivi selon le cas d'une analyse génétique. Une fois le diagnostic confirmé chez ce patient, il sera facile de suspecter la maladie chez d'autres membres du 1er degré à partir d'une table de référence que nous présentons dans cet article. Cette table donne les seuils de concentrations de cholestérol LDL (selon l'âge et le sexe) à partir desquels il faut suspecter l’existence d’une hypercholestérolémie familiale chez un parent au 1er degré. Nous joignons également à cet article un modèle de lettre qui peut être adressé aux membres de cette famille pour éveiller leur attention sur l’existence de cette maladie et faciliter le travail de leur médecin généraliste. Familial hypercholesterolemia is a common, yet often underdiagnosed, genetic disease. Nevertheless, this condition is easily manageable provided that the disease is detected early enough and appropriately treated. Our article presents some diagnostic tools for this condition. In a first patient of an as yet unexplored family, referred to as the index patient, we propose to use the DLCN (Dutch Lipid Clinic Network) score, which should be followed by genetic analysis, depending on the case. Once the diagnosis has been confirmed in this index patient, the disease can easily be identified in other firstdegree relatives based on a reference table that has presented in this article. This table provides the threshold values of LDL cholesterol concentrations, according to age and gender, at which the existence of familial hypercholesterolemia in a first-degree relative should be suspected. To this article, we have attached a sample letter that can be addressed to family members, designed to alert them on this disease and facilitate the work-up of their general practitioners