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https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#1
Illja Diets, Esmé Waanders, Marjolijn J L Ligtenberg, Diede van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J W Olderode-Berends, Erica H Gerkes, David Koolen, Carlo Marcelis, Gijs We Santen, Martine van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto-van Silfhout, Thatjana Gardeitchik, E S J M de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn Jongmans
PURPOSE: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole exome sequencing on a selected cohort of children with cancer. EXPERIMENTAL DESIGN: To identify mutations in known and novel cancer predisposing genes, we performed trio-based whole exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer or (4) an adult type of cancer...
January 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29344419/dendrobium-sources-of-active-ingredients-to-treat-age-related-pathologies
#2
REVIEW
Veronika Cakova, Frederic Bonte, Annelise Lobstein
Dendrobium represents one of the most important orchid genera, ornamentally and medicinally. Dendrobiums are sympodial epiphytic plants, which is a name they are worthy of, the name coming from Greek origin: "dendros", tree, and "bios", life. Dendrobium species have been used for a thousand years as first-rate herbs in traditional Chinese medicine (TCM). They are source of tonic, astringent, analgesic, antipyretic, and anti-inflammatory substances, and have been traditionally used as medicinal herbs in the treatment of a variety of disorders, such as, nourishing the stomach, enhancing production of body fluids or nourishing Yin...
December 2017: Aging and Disease
https://www.readbyqxmd.com/read/29343468/onabotulinum-toxin-a-injections-for-sleep-bruxism-a-double-blind-placebo-controlled-study
#3
William G Ondo, Jerald H Simmons, Muhammad H Shahid, Vera Hashem, Christine Hunter, Joseph Jankovic
OBJECTIVES: To test the safety and efficacy of onabotulinum toxin-A (BoNT-A) injections into the masseter and temporalis muscles in patients with symptomatic sleep bruxism. METHODS: Participants 18 to 85 years old with clinically diagnosed sleep bruxism confirmed by polysomnography were enrolled in this randomized, placebo-controlled, 1:1, parallel-design trial with open-label extension. Participants were injected with BoNT-A 200 units (60 into each masseter and 40 into each temporalis) or placebo and were evaluated at 4 to 8 weeks after the initial treatment visit...
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29341502/advances-in-intravesical-therapy-for-bladder-pain-syndrome-bps-interstitial-cystitis-ic
#4
REVIEW
En Meng, Yu-Chao Hsu, Yao-Chi Chuang
Bladder pain syndrome (BPS)/interstitial cystitis (IC) is a chronic symptom complex that may cause bothersome storage symptoms and pain or discomfort of the bladder, adversely affecting a patient's quality of life. The etiology of IC/BPS remains unclear, and its cause may be multifactorial. Diagnosis of IC/BPS is based on clinical features, and the possibility of other conditions must be ruled out first. Although no definitive treatment is currently available for IC/BPS, various intravesical therapies are used for IC/BPS, including heparin, hyaluronic acid, chondroitin sulfate, pentosan polysulfate, dimethylsulfoxide, liposomes, and botulinum onabotulinumtoxinA (BoNT-A)...
January 2018: Lower Urinary Tract Symptoms
https://www.readbyqxmd.com/read/29331031/comparative-study-of-efficacy-and-safety-between-bladder-body-and-trigonal-intravesical-onabotulinumtoxina-injection-in-the-treatment-of-interstitial-cystitis-refractory-to-conventional-treatment-a-prospective-randomized-clinical-trial
#5
Yuan-Hong Jiang, Jia-Fong Jhang, Cheng-Ling Lee, Hann-Chorng Kuo
PURPOSE: Intravesical onabotulinumtoxinA (BoNT-A) injection can relieve symptoms of interstitial cystitis/bladder pain syndrome (IC/BPS). However, the therapeutic efficacy of different injection sites is not well known. This study compared therapeutic efficacy and safety between bladder body and trigonal BoNT-A injection. MATERIALS AND METHODS: Patients were randomly treated with 100U of BoNT-A in 10 mL saline injected into 20 bladder body sites or 10 trigonal sites...
January 13, 2018: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29329390/human-oocyte-calcium-analysis-predicts-the-response-to-assisted-oocyte-activation-in-patients-experiencing-fertilization-failure-after-icsi
#6
M Ferrer-Buitrago, L Dhaenens, Y Lu, D Bonte, F Vanden Meerschaut, P De Sutter, L Leybaert, B Heindryckx
STUDY QUESTION: Can human oocyte calcium analysis predict fertilization success after assisted oocyte activation (AOA) in patients experiencing fertilization failure after ICSI? SUMMARY ANSWER: ICSI-AOA restores the fertilization rate only in patients displaying abnormal Ca2+ oscillations during human oocyte activation. WHAT IS KNOWN ALREADY: Patients capable of activating mouse oocytes and who showed abnormal Ca2+ profiles after mouse oocyte Ca2+ analysis (M-OCA), have variable responses to ICSI-AOA...
January 10, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29326295/randomised-controlled-trial-of-escitalopram-for-cervical-dystonia-with-dystonic-jerks-tremor
#7
Evelien Zoons, Jan Booij, Catherine C S Delnooz, Joke M Dijk, Yasmine E M Dreissen, Johannes H T M Koelman, Sandra M A van der Salm, Matej Skorvanek, Marenka Smit, Majid Aramideh, Henriette Bienfait, Agnita J W Boon, Jeroen W M Brans, Edo Hoogerwaard, Ad Hovestadt, Daan J Kamphuis, Alexander G Munts, Johannes D Speelman, Marina A J Tijssen
OBJECTIVE: Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI) escitalopram. METHODS: In a randomised, double-blind, crossover trial, patients with CD received escitalopram and placebo for 6 weeks. Treatment with BoNT was continued, and scores on rating scales regarding dystonia, psychiatric symptoms and quality of life (QoL) were compared...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29325603/culture-conditions-affect-ca2-release-in-artificially-activated-mouse-and-human-oocytes
#8
Yuechao Lu, Davina Bonte, Minerva Ferrer-Buitrago, Mina Popovic, Jitesh Neupane, Margot Van der Jeught, Luc Leybaert, Petra De Sutter, Björn Heindryckx
Inconsistent fertilisation and pregnancy rates have been reported by different laboratories after application of ionomycin as a clinical method of assisted oocyte activation (AOA) to overcome fertilisation failure. Using both mouse and human oocytes, in the present study we investigated the effects of ionomycin and Ca2+ concentrations on the pattern of Ca2+ release and embryonic developmental potential. In the mouse, application of 5μM ionomycin in potassium simplex optimisation medium (KSOM) or 10µM ionomycin in Ca2+-free KSOM significantly reduced the Ca2+ flux and resulted in failure of blastocyst formation compared with 10μM ionomycin in KSOM...
January 12, 2018: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/29302319/the-burden-of-respiratory-syncytial-virus-rsv-associated-acute-lower-respiratory-infections-in-children-with-down-syndrome-a-systematic-review-and-meta-analysis
#9
Markus Chan, John J Park, Ting Shi, Federico Martinón-Torres, Louis Bont, Harish Nair
Background: Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established...
December 2017: Journal of Global Health
https://www.readbyqxmd.com/read/29301539/development-of-an-inventory-of-goals-using-the-international-classification-of-functioning-disability-and-health-in-a-population-of-non-ambulatory-children-and-adolescents-with-cerebral-palsy-treated-with-botulinum-toxin-a
#10
Linda Nguyen, Ronit Mesterman, Jan Willem Gorter
BACKGROUND: In the management of hypertonicity in children with cerebral palsy (CP), goals should be clearly identified in order to evaluate the effectiveness of botulinum toxin A (BoNT-A) treatment, specifically in non-ambulatory children and adolescents, Gross Motor Function Classification System (GMFCS), level IV or V. A retrospective chart review (Mesterman et al., 2013) identified the need for the development of a set of specific and meaningful goals linked to the International Classification of Functioning, Disability and Health (ICF) for future goal setting and evaluation in this population...
January 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29299264/how-tree-species-identity-and-diversity-affect-light-transmittance-to-the-understory-in-mature-temperate-forests
#11
Bram K Sercu, Lander Baeten, Frieke van Coillie, An Martel, Luc Lens, Kris Verheyen, Dries Bonte
Light is a key resource for plant growth and is of particular importance in forest ecosystems, because of the strong vertical structure leading to successive light interception from canopy to forest floor. Tree species differ in the quantity and heterogeneity of light they transmit. We expect decreases in both the quantity and spatial heterogeneity of light transmittance in mixed stands relative to monocultures, due to complementarity effects and niche filling. We tested the degree to which tree species identity and diversity affected, via differences in tree and shrub cover, the spatiotemporal variation in light availability before, during, and after leaf expansion...
December 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29288126/high-resolution-crystal-structures-of-clostridium-botulinum-neurotoxin-a3-and-a4-binding-domains
#12
Jonathan Davies, Jay Rees, Sai Man Liu, K Ravi Acharya
Clostridium botulinum neurotoxins (BoNTs) cause the life-threatening condition, botulism. However, while they have the potential to cause serious harm, they are increasingly being utilised for therapeutic applications. BoNTs comprise of seven distinct serotypes termed BoNT/A through BoNT/G, with the most widely characterised being sub-serotype BoNT/A1. Each BoNT consists of three structurally distinct domains, a binding domain (HC), a translocation domain (HN), and a proteolytic domain (LC). The HC domain is responsible for the highly specific targeting of the neurotoxin to neuronal cell membranes...
December 26, 2017: Journal of Structural Biology
https://www.readbyqxmd.com/read/29287670/investigation-of-clostridium-botulinum-group-iii-s-mobilome-content
#13
Cédric Woudstra, Caroline Le Maréchal, Rozenn Souillard, Fabrizio Anniballi, Bruna Auricchio, Luca Bano, Marie-Hélène Bayon-Auboyer, Miriam Koene, Isabelle Mermoud, Roseane B Brito, Francisco C F Lobato, Rodrigo O S Silva, Martin B Dorner, Patrick Fach
Clostridium botulinum group III is mainly responsible for botulism in animals. It could lead to high animal mortality rates and, therefore, represents a major environmental and economic concern. Strains of this group harbor the botulinum toxin locus on an unstable bacteriophage. Since the release of the first complete C. botulinum group III genome sequence (strain BKT015925), strains have been found to contain others mobile elements encoding for toxin components. In this study, seven assays targeting toxin genes present on the genetic mobile elements of C...
December 26, 2017: Anaerobe
https://www.readbyqxmd.com/read/29283397/ultrasound-guidance-for-botulinum-neurotoxin-chemodenervation-procedures
#14
REVIEW
Katharine E Alter, Barbara I Karp
Injections of botulinum neurotoxins (BoNTs) are prescribed by clinicians for a variety of disorders that cause over-activity of muscles; glands; pain and other structures. Accurately targeting the structure for injection is one of the principle goals when performing BoNTs procedures. Traditionally; injections have been guided by anatomic landmarks; palpation; range of motion; electromyography or electrical stimulation. Ultrasound (US) based imaging based guidance overcomes some of the limitations of traditional techniques...
December 28, 2017: Toxins
https://www.readbyqxmd.com/read/29276479/digit-ratio-2d-4d-predicts-self-reported-measures-of-general-competitiveness-but-not-behavior-in-economic-experiments
#15
Werner Bönte, Vivien D Procher, Diemo Urbig, Martin Voracek
The ratio of index finger length to ring finger length (2D:4D) is considered to be a putative biomarker of prenatal androgen exposure (PAE), with previous research suggesting that 2D:4D is associated with human behaviors, especially sex-typical behaviors. This study empirically examines the relationship between 2D:4D and individual competitiveness, a behavioral trait that is found to be sexually dimorphic. We employ two related, but distinct, measures of competitiveness, namely behavioral measures obtained from economic experiments and psychometric self-reported measures...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29274577/assessing-the-suitability-of-a-manometric-test-system-for-determining-the-biodegradability-of-volatile-hydrocarbons
#16
David M Brown, Christopher B Hughes, Michael Spence, Matthijs Bonte, Graham Whale
Manometric test systems, adapted from those used to measure biochemical oxygen demand (BOD), and the OxiTop® test system in particular, are being increasingly used to determine the biodegradability of chemicals in accordance to OECD 301F guidelines. In this study, the suitability of the OxiTop® test system for determining the biodegradability of volatile hydrophobic substances has been explored. Experiments in biotic and abiotic systems were conducted with readily biodegradable complex aliphatic hydrocarbons covering a range of volatilities...
December 7, 2017: Chemosphere
https://www.readbyqxmd.com/read/29273248/substrate-cleavage-and-duration-of-action-of-botulinum-neurotoxin-type-fa-h-ha
#17
Sabine Pellett, William H Tepp, Guangyun Lin, Eric A Johnson
Botulinum neurotoxin (BoNT) type FA is the only known naturally occurring chimeric BoNT of domains of BoNT/A and BoNT/F. BoNT/FA consists of an F5-like light chain (LC), a unique heavy chain (HC) translocation domain, and a HC receptor binding domain similar to BoNT/A1. Previous analyses of purified BoNT/FA have indicated a 5-10-fold greater potency in cultured human or rat neurons as compared to BoNT/A1 and a 400-500-fold greater potency compared to BoNT/B1. However, in vivo potency in mice was about 5-fold lower than BoNT/A1 or/B1...
December 19, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29261464/frederick-j-bonte-md
#18
Neil M Rofsky
No abstract text is available yet for this article.
January 2018: Radiology
https://www.readbyqxmd.com/read/29205038/metabolic-changes-during-storage-of-brassica-napus-seeds-under-moist-conditions-and-consequences-for-the-sensory-quality-of-the-resulting-virgin-oil
#19
Anja Bonte, Rabea Schweiger, Caroline Pons, Claudia Wagner, Ludger Brühl, Bertrand Matthäus, Caroline Müller
Virgin rapeseed (Brassica napus) oil is a valuable niche product, if delivered in high quality. In this study, the effects of moist storage of B. napus seeds for one to four days on the seed metabolome and the chemo-sensory properties of the produced oils were determined. The concentrations of several primary metabolites including monosaccharides and amino acids rapidly increased in the seeds, probably indicating the breakdown of storage compounds to support seed germination. Seed concentrations of indole glucosinolates increased with a slight time offset suggesting that amino acids may be used to modify secondary metabolism...
December 5, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29180028/dual-route-targeted-vaccine-protects-efficiently-against-botulinum-neurotoxin-a-complex
#20
Bikash Sahay, Natacha Colliou, Mojgan Zadeh, Yong Ge, Minghao Gong, Jennifer L Owen, Melissa Valletti, Christian Jobin, Mansour Mohamadzadeh
Clostridium botulinum readily persists in the soil and secretes life-threatening botulinum neurotoxins (BoNTs) that are categorized into serotypes A to H, of which, serotype A (BoNT/A) is the most commonly occurring in nature. An efficacious vaccine with high longevity against BoNT intoxication is urgent. Herein, we developed a dual-route vaccine administered over four consecutive weeks by mucosal and parenteral routes, consisting of the heavy chain (Hc) of BoNT/A targeting dendritic cell peptide (DCpep) expressed by Lactobacillus acidophilus as a secretory immunogenic protein...
November 24, 2017: Vaccine
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