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https://www.readbyqxmd.com/read/29764733/genetic-polymorphism-of-sterol-transporters-in-children-with-future-gallstones
#1
Markku J Nissinen, Niina Pitkänen, Piia Simonen, Helena Gylling, Jorma Viikari, Olli Raitakari, Terho Lehtimäki, Markus Juonala, Mikko P Pakarinen
BACKGROUND & AIMS: Gallstone disease is related to hypersecretion of cholesterol in bile, and low serum phytosterol levels. We examined how genetic polymorphisms of sterol transporters affect childhood cholesterol metabolism trait predicting adult gallstone disease. PATIENTS AND METHODS: In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126)...
April 26, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#2
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29755435/analysis-of-phylogenetic-variation-of-stenotrophomonas-maltophilia-reveals-human-specific-branches
#3
Joerg Steinmann, Uwe Mamat, Ebrahim M Abda, Lisa Kirchhoff, Wolfgang R Streit, Ulrich E Schaible, Stefan Niemann, Thomas A Kohl
Stenotrophomonas maltophilia is a non-fermenting Gram-negative bacterium that is ubiquitous in the environment. In humans, this opportunistic multi-drug-resistant pathogen is responsible for a plethora of healthcare-associated infections. Here, we utilized a whole genome sequencing (WGS)-based phylogenomic core single nucleotide polymorphism (SNP) approach to characterize S. maltophilia subgroups, their potential association with human infection, and to detect any possible transmission events. In total, 89 isolates (67 clinical and 22 environmental) from Germany were sequenced...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29753706/improvement-of-impaired-electrical-activity-in-npc1-mutant-cortical-neurons-upon-dhpg-stimulation-detected-by-micro-electrode-array
#4
Xiao Feng, Benjamin M Bader, Fan Yang, Monica Segura, Luise Schultz, Olaf H-U Schröder, Arndt Rolfs, Jiankai Luo
Niemann-Pick Type C1 (NPC1) disease is an autosomal recessive neurodegenerative disease characterized by an excessive accumulation of unesterified cholesterol in late endosomes/lysosomes. Patients with NPC1 disease show a series of symptoms in neuropathology, including a gradually increased loss of motor control and seizures. However, mechanism of the neurological manifestations in NPC1 disease is not fully understood yet. In this study, we utilized the micro-electrode array (MEA) to analyze the spontaneous extracellular electrical activity in cultivated cortical neurons of the NPC1 mutant (NPC1-/- ) mouse...
May 10, 2018: Brain Research
https://www.readbyqxmd.com/read/29750531/structural-motifs-in-cold-ternary-ion-complexes-of-hydroxyl-functionalized-ionic-liquids-isolating-the-role-of-cation-cation-interactions
#5
Fabian S Menges, Helen J Zeng, Patrick J Kelleher, Olga Gorlova, Mark A Johnson, Thomas Niemann, Anne Strate, Ralf Ludwig
We address the competition between intermolecular forces underlying the recent observation that ionic liquids (ILs) with a hydroxyl-functionalized cation can form domains with attractive interactions between the nominally repulsive positively charged constituents. Here we show that this behavior is present even in the isolated ternary (HEMIm+ )2 NTf2 ¯ complex (HEMIm+ = 1-(2-hydroxyethyl)-3-methylimidazolium) cooled to about 35 K in a photodissociation mass spectrometer. Of the three isomers isolated by double resonance techniques, one is identified to exhibit a direct contact between the cations...
May 11, 2018: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/29749910/a-novel-low-cost-reusable-high-fidelity-neurosurgical-training-simulator-for-cerebrovascular-bypass-surgery
#6
Ulas Cikla, Balkan Sahin, Sahin Hanalioglu, Azam S Ahmed, David Niemann, Mustafa K Baskaya
OBJECTIVE Cerebrovascular bypass surgery is a challenging yet important neurosurgical procedure that is performed to restore circulation in the treatment of carotid occlusive diseases, giant/complex aneurysms, and skull base tumors. It requires advanced microsurgical skills and dedicated training in microsurgical techniques. Most available training tools, however, either lack the realism of the actual bypass surgery (e.g., artificial vessel, chicken wing models) or require special facilities and regulations (e...
May 11, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29748162/cocreated-smartphone-app-to-improve-the-quality-of-life-of-adolescents-and-young-adults-with-cancer-kr%C3%A3-ftv%C3%A3-rket-protocol-for-a-quantitative-and-qualitative-evaluation
#7
Abbey Elsbernd, Maiken Hjerming, Camilla Visler, Lisa Lyngsie Hjalgrim, Carsten Utoft Niemann, Kirsten Boisen, Helle Pappot
BACKGROUND: Adolescents and young adults with cancer face significant challenges during the course of their medical treatment and recovery from illness. Many adolescents and young adults struggle with long-term complications in the physical, psychosocial, economic, and academic domains. Mobile health (mHealth) interventions provide an innovative platform for delivering supportive care, particularly through the utilization of apps on smartphones and tablets. To create a successful mHealth intervention for adolescents and young adults, youth input and feedback is essential...
May 10, 2018: JMIR Research Protocols
https://www.readbyqxmd.com/read/29746521/a-flavin-dependent-halogenase-from-metagenomic-analysis-prefers-bromination-over-chlorination
#8
Pia R Neubauer, Christiane Widmann, Daniel Wibberg, Lea Schröder, Marcel Frese, Tilman Kottke, Jörn Kalinowski, Hartmut H Niemann, Norbert Sewald
Flavin-dependent halogenases catalyse halogenation of aromatic compounds. In most cases, this reaction proceeds with high regioselectivity and requires only the presence of FADH2, oxygen, and halide salts. Since marine habitats contain high concentrations of halides, organisms populating the oceans might be valuable sources of yet undiscovered halogenases. A new Hidden-Markov-Model (HMM) based on the PFAM tryptophan halogenase model was used for the analysis of marine metagenomes. Eleven metagenomes were screened leading to the identification of 254 complete or partial putative flavin-dependent halogenase genes...
2018: PloS One
https://www.readbyqxmd.com/read/29744533/-epidemiological-studies-with-environmental-relevance-in-germany
#9
REVIEW
Alexandra Schneider, Regina Rückerl, Marie Standl, Iana Markevych, Barbara Hoffmann, Susanne Moebus, Karl-Heinz Jöckel, Alisa Weber, Caroline Herr, Annette Heißenhuber, Uta Nennstiel-Ratzel, Stefanie Heinze, Christine Schulz, Marike Kolossa-Gehring, Hildegard Niemann, Antje Gößwald, Tamara Schikowski, Anke Hüls, Dorothee Sugiri, Annette Peters
Our environment is a major factor in determining health and well-being throughout life, from conception into old age. This overview illustrates the most important epidemiological studies and health monitoring systems in Germany, which investigate environmental influences in various population subgroups and estimate related health effects. Environmental factors examined in each study are described. The mentioned studies in children and adults build the basis for predictions and preventive measures. The number of the assessed environmental factors, the depth of the examinations as well as the (phenotypical) characterization of the study participants differ...
May 9, 2018: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29741656/differences-in-pressure-within-the-sac-of-human-ruptured-and-nonruptured-cerebral-aneurysms
#10
Yiping Li, Mark Corriveau, Beverly Aagaard-Kienitz, Azam Ahmed, David Niemann
BACKGROUND: Hemodynamics plays a critical role in the development, growth, and rupture of intracranial aneurysms. This data could be vital in determining individual aneurysm rupture risk and could facilitate our understanding of aneurysms. OBJECTIVE: To present the largest prospective cross-sectional cohort study of intrasaccular pressure recordings of ruptured and nonruptured intracranial aneurysms and describe the hemodynamic differences that exist between ruptured and nonruptured aneurysms...
May 8, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29738791/altered-gene-expression-pattern-indicates-the-differential-regulation-of-the-immune-response-system-as-an-important-factor-in-cardiac-aging
#11
Babett Bartling, Katja Niemann, Rainer U Pliquett, Hendrik Treede, Andreas Simm
Numerous changes occur in the old myocardium which finally cause lower cardiac output and, therefore, circulatory dysfunction. In order to identify an age-related gene expression pattern, we analyzed left ventricular myocardium of adult (6 months) and old (24 months) mice by use of whole genome expression arrays. About 2.3% of genes expressed above the median value of all genes were differentially expressed in old hearts. Nearly all of them were upregulated. After application of defined exclusion criteria, 98 genes were selected for a more detailed analysis...
May 5, 2018: Experimental Gerontology
https://www.readbyqxmd.com/read/29738612/evidence-for-a-subcortical-contribution-to-intracortical-facilitation
#12
Patrick Wiegel, Niclas Niemann, John C Rothwell, Christian Leukel
Intracortical facilitation (ICF) describes the facilitation of an EMG response (motor evoked potential) to a suprathreshold pulse (S2) of transcranial magnetic stimulation (TMS) by a preceding subthreshold pulse (S1) given 10 to 15 ms earlier. ICF is widely assumed to originate from intracortical mechanisms. In the present study, we used spinal H-reflexes to test whether subcortical mechanisms can also contribute to the facilitation. Measurements were performed in the upper limb muscle flexor carpi radialis (FCR) in 17 healthy volunteers, and in the lower limb muscle soleus (SOL) in 16 healthy volunteers...
May 8, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29737953/gadolinium-distribution-in-cerebrospinal-fluid-after-administration-of-a-gadolinium-based-mr-contrast-agent-in-humans
#13
Florian Berger, Rahel A Kubik-Huch, Tilo Niemann, Hans Ruedi Schmid, Michael Poetzsch, Johannes M Froehlich, Jürg H Beer, Michael J Thali, Thomas Kraemer
Purpose To evaluate whether gadolinium penetrates human cerebrospinal fluid (CSF) after MR imaging (MRI) with a gadolinium-based contrast agent (GBCA). Materials and Methods For this retrospective study, the authors analyzed 60 CSF samples from 57 patients (median age, 50 years; range, 3-92 years) who underwent one contrast material-enhanced MRI examination with gadoterate meglumine within 60 days of CSF extraction between January and December 2016. CSF samples from patients who underwent MRI without contrast material administration (n = 22) or those who underwent contrast-enhanced MRI at least 1 year before extraction (n = 2) were analyzed and used as control samples...
May 8, 2018: Radiology
https://www.readbyqxmd.com/read/29725814/inhibition-of-mir-486-and-mir-92a-decreases-liver-and-plasma-cholesterol-levels-by-modulating-lipid-related-genes-in-hyperlipidemic-hamsters
#14
Loredan S Niculescu, Natalia Simionescu, Elena V Fuior, Camelia S Stancu, Mihaela G Carnuta, Madalina D Dulceanu, Mina Raileanu, Emanuel Dragan, Anca V Sima
In the present study we aimed to evaluate the potential of in vivo inhibition of miR-486 and miR-92a to reverse hyperlipidemia, then to identify and validate their lipid metabolism-related target genes. Male Golden-Syrian hamsters fed a hyperlipidemic (HL) diet (standard chow plus 3% cholesterol and 15% butter, 10 weeks) were injected subcutaneously with lock-nucleic acid inhibitors for either miR-486 or miR-92a. Lipids and miRNAs levels in liver and plasma, and hepatic expression of miRNAs target genes were assessed in all HL hamsters...
May 3, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29723734/characteristics-of-single-vehicle-crashes-with-e-bikes-in-switzerland
#15
Patrizia Hertach, Andrea Uhr, Steffen Niemann, Mario Cavegn
In Switzerland, the usage and accident numbers of e-bikes have strongly increased in recent years. According to official statistics, single-vehicle accidents constitute an important crash type. Up to date, very little is known about the mechanisms and causes of these crashes. To gain more insight, a survey was conducted among 3658 e-cyclists in 2016. The crash risk and injury severity were analysed using logistic regression models. 638 (17%) e-cyclists had experienced a single-vehicle accident in road traffic since the beginning of their e-bike use...
April 30, 2018: Accident; Analysis and Prevention
https://www.readbyqxmd.com/read/29721961/early-endosome-morphology-in-health-and-disease
#16
Gulpreet Kaur, Aparna Lakkaraju
Early endosomes are organelles that receive macromolecules and solutes from the extracellular environment. The major function of early endosomes is to sort these cargos into recycling and degradative compartments of the cell. Degradation of the cargo involves maturation of early endosomes into late endosomes, which, after acquisition of hydrolytic enzymes, form lysosomes. Endosome maturation involves recruitment of specific proteins and lipids to the early endosomal membrane, which drives changes in endosome morphology...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29718288/the-pathogenesis-of-lysosomal-storage-disorders-beyond-the-engorgement-of-lysosomes-to-abnormal-development-and-neuroinflammation
#17
Maria Teresa Fiorenza, Enrico Moro, Robert P Erickson
There is growing evidence that the complex clinical manifestations of lysosomal storage diseases (LSDs) are not fully explained by the engorgement of the endosomal-autophagic-lysosomal system. In this review, we explore current knowledge of common pathogenetic mechanisms responsible for the early onset of tissue abnormalities of two LSDs, Mucopolysaccharidosis type II (MPSII) and Niemann-Pick type C (NPC) diseases. In particular, perturbations of the homeostasis of glycosaminoglycans (GAGs) and cholesterol (Chol) in MPSII and NPC diseases, respectively, affect key biological processes, including morphogen signaling...
April 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29709562/novel-cyclo-peptides-inhibit-ebola-pseudotyped-virus-entry-by-targeting-primed-gp-protein
#18
Quanjie Li, Ling Ma, Dongrong Yi, Han Wang, Jing Wang, Yongxin Zhang, Ying Guo, Xiaoyu Li, Jinming Zhou, Yi Shi, George F Gao, Shan Cen
Ebola virus (EBOV) causes fatal hemorrhagic fever with high death rates in human. Currently, there are no available clinically-approved prophylactic or therapeutic treatments. The recently solved crystal structure of cleavage-primed EBOV glycoprotein (GPcl) in complex with the C domain of endosomal protein Niemann-Pick C1 (NPC1) provides a new target for the development of EBOV entry inhibitors. In this work, a computational approach using docking and molecular dynamic simulations is carried out for the rational design of peptide inhibitors...
April 27, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29708085/weekly-checks-improve-real-time-prehospital-ecg-transmission-in-suspected-stemi
#19
Nicole T D'Arcy, Nichole Bosson, Amy H Kaji, Quang T Bui, William J French, Joseph L Thomas, Yvonne Elizarraraz, Natalia Gonzalez, Jose Garcia, James T Niemann
IntroductionField identification of ST-elevation myocardial infarction (STEMI) and advanced hospital notification decreases first-medical-contact-to-balloon (FMC2B) time. A recent study in this system found that electrocardiogram (ECG) transmission following a STEMI alert was frequently unsuccessful.HypothesisInstituting weekly test ECG transmissions from paramedic units to the hospital would increase successful transmission of ECGs and decrease FMC2B and door-to-balloon (D2B) times. METHODS: This was a natural experiment of consecutive patients with field-identified STEMI transported to a single percutaneous coronary intervention (PCI)-capable hospital in a regional STEMI system before and after implementation of scheduled test ECG transmissions...
April 30, 2018: Prehospital and Disaster Medicine
https://www.readbyqxmd.com/read/29704574/the-intersection-of-lysosomal-and-endoplasmic-reticulum-calcium-with-autophagy-defects-in-lysosomal-diseases
#20
REVIEW
Elaine A Liu, Andrew P Lieberman
The lysosomal storage disorders (LSDs) encompass a group of more than 50 inherited diseases characterized by the accumulation of lysosomal substrates. Two-thirds of patients experience significant neurological symptoms, but the mechanisms of neurodegeneration are not well understood. Interestingly, a wide range of LSDs show defects in both autophagy and Ca2+ homeostasis, which is notable as Ca2+ is a key regulator of autophagy. The crosstalk between these pathways in the context of LSD pathogenesis is not well characterized, but further understanding of this relationship could open up promising therapeutic targets...
April 25, 2018: Neuroscience Letters
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