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https://www.readbyqxmd.com/read/28074523/familial-gastrointestinal-stromal-tumors-lentigines-and-caf%C3%A3-au-lait-macules-associated-with-germline-c-kit-mutation-treated-with-imatinib
#1
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, Elisa A Colombo, Laura Fontana, Cristina Gervasini, Devinder M Thappa, Medha Rajappa, Kalai Selvi Rajendiran, Gubbi Shamanna Sreenath, Vikram Kate
BACKGROUND: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes...
February 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28057911/guanosine-5-monophosphate-chelated-calcium-and-iron-feed-additives-maintains-egg-production-and-prevents-salmonella-gallinarum-in-experimentally-infected-layers
#2
Hye-Ji Noh, HeeKyong Kim, Su Jeong Heo, Hyang Hyun Cho, Hong Bum Koh
We evaluated the effects of guanosine 5'-monophosphate (GMP) -chelated calcium and iron (CaFe-GMP) on the health and egg quality in layers experimentally infected with Salmonella Gallinarum. In this study, CaFe-GMP feed additives was fed with commercial layer feed to layer over four weeks and all were inoculated with Salmonella Gallinarum. Body weight, mortality, clinical symptoms, and poultry production including feed intake, egg production, egg loss, and feed conversion rate were observed and Salmonella Gallinarum was re-isolated from the liver, spleen, and cecum of the layers...
January 4, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28051336/social-big-data-analysis-of-information-spread-and-perceived-infection-risk-during-the-2015-middle-east-respiratory-syndrome-outbreak-in-south-korea
#3
Juyoung Song, Tae Min Song, Dong-Chul Seo, Dal-Lae Jin, Jung Sun Kim
We investigated online diffusion of information, spread of fear, and perceived risk of infection to Middle East Respiratory Syndrome (MERS) as cases of MERS spread rapidly and dozens of fatalities occurred in South Korea in May-June of 2015. This study retrieved 8,671,695 MERS-related online documents from May 20 to June 18, 2015, from 171 Korean online channels and analyzed such documents by using multilevel models and data mining with Apriori algorithm association analysis. We used R software (version 3.2...
January 2017: Cyberpsychology, Behavior and Social Networking
https://www.readbyqxmd.com/read/28030855/a-rare-de-novo-interstitial-duplication-at-4p15-2-in-a-boy-with-severe-congenital-heart-defects-limb-anomalies-hypogonadism-and-global-developmental-delay
#4
Liyang Liang, Yingjun Xie, Yiping Shen, Qibin Yin, Haiming Yuan
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments...
December 29, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28024406/the-effect-of-conformational-flexibility-on-binding-free-energy-estimation-between-kinases-and-their-inhibitors
#5
Mitsugu Araki, Narutoshi Kamiya, Miwa Sato, Masahiko Nakatsui, Takatsugu Hirokawa, Yasushi Okuno
Accurate prediction of binding affinities of drug candidates to their targets remains challenging because of protein flexibility in solution. Conformational flexibility of the ATP-binding site in the CDK2 and ERK2 kinases was identified using molecular dynamics simulations. The binding free energy (ΔG) of twenty-four ATP-competitive inhibitors toward these kinases was assessed using an alchemical free energy perturbation method, MP-CAFEE. However, large calculation errors of 2-3 kcal/mol were observed using this method, where the free energy simulation starts from a single equilibrated conformation...
December 27, 2016: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28011348/multidrug-transporters-and-organic-anion-transporting-polypeptides-protect-insects-against-the-toxic-effects-of-cardenolides
#6
Simon C Groen, Erika R LaPlante, Nicolas M Alexandre, Anurag A Agrawal, Susanne Dobler, Noah K Whiteman
In the struggle against dietary toxins, insects are known to employ target site insensitivity, metabolic detoxification, and transporters that shunt away toxins. Specialized insects across six taxonomic orders feeding on cardenolide-containing plants have convergently evolved target site insensitivity via specific amino acid substitutions in the Na/K-ATPase. Nonetheless, in vitro pharmacological experiments have suggested a role for multidrug transporters (Mdrs) and organic anion transporting polypeptides (Oatps), which may provide a basal level of protection in both specialized and non-adapted insects...
December 21, 2016: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28007843/clinical-characteristics-and-management-of-growth-hormone-excess-in-patients-with-mccune-albright-syndrome
#7
Yong Yao, Yang Liu, Lin Jie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen, Hui Juan Zhu
OBJECTIVE: McCune-Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS, and analyze the responses of these patients to treatments. DESIGN: Retrospective clinical study. METHODS: Clinical data from 52 MAS patients were analyzed...
December 22, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27989266/the-mountainous-cretan-dietary-patterns-and-their-relationship-with-cardiovascular-risk-factors-the-hellenic-isolated-cohorts-manolis-study
#8
Aliki-Eleni Farmaki, Nigel William Rayner, Angela Matchan, Panagiota Spiliopoulou, Arthur Gilly, Vasiliki Kariakli, Chrysoula Kiagiadaki, Emmanouil Tsafantakis, Eleftheria Zeggini, George Dedoussis
OBJECTIVE: We carried out de novo recruitment of a population-based cohort (MANOLIS study) and describe the specific population, which displays interesting characteristics in terms of diet and health in old age, through deep phenotyping. DESIGN: Cross-sectional study where anthropometric, biochemical and clinical measurements were taken in addition to interview-based completion of an extensive questionnaire on health and lifestyle parameters. Dietary patterns were derived through principal component analysis based on a validated FFQ...
December 19, 2016: Public Health Nutrition
https://www.readbyqxmd.com/read/27984197/chronic-nicotine-treatment-decreases-lps-signaling-through-nf-%C3%AE%C2%BAb-and-tlr-4-modulation-in-the-hippocampus
#9
Cecília Cerqueira Café-Mendes, Humberto Miguel Garay-Malpartida, Marília Brinati Malta, Cristóforo Scavone, Zulma S Ferreira, Regina P Markus, Tania Marcourakis
The hippocampus is a brain region that is rich in nicotinic acetylcholine receptors (nAChRs), especially the α7 subtype. The hippocampus is severely affected in disorders that have a neuroinflammatory component, such as Alzheimer's disease, Parkinson's disease, and schizophrenia. Previous studies demonstrated both in vivo and in vitro that nicotine inhibits immunological responses, including those that are triggered by the inflammatory agent lipopolysaccharide (LPS), the endotoxin of Gram-negative bacteria...
October 28, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27984161/modulatory-effects-of-cassia-fistula-fruits-against-free-radicals-and-genotoxicity-of-mutagens
#10
Sandeep Kaur, Manish Kumar, Paramjeet Kaur, Varinder Kaur, Satwinderjeet Kaur
Cassia fistula L. (Fabaceae) fruits are highly recommended in folklore medicine for curing various ailments. In the current study, methanol (CaFM), hexane (CaFH), chloroform (CaFCl), ethyl acetate (CaFE), butanol (CaFB) and aqueous (CaFA) fractions of C. fistula fruits were investigated for their potential to inhibit the genotoxicity of mutagens and free radicals. The antimutagenicity of fractions was evaluated against the reactive carcinogenic ester generating mutagen, 2-aminofluorene (2-AF) and frame-shift mutation inducing mutagen, 4-nitro-o-phenylenediamine (NPD) in Ames Salmonella typhimurium TA98 tester strain...
October 28, 2016: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#11
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27977879/longitudinal-study-shows-that-addictive-internet-use-during-adolescence-was-associated-with-heavy-drinking-and-smoking-cigarettes-in-early-adulthood
#12
Bo Hye Lee, Hae Kook Lee
AIM: Existing studies showing an association between substance use disorders and Internet addiction have been limited due their cross-sectional design. This longitudinal study investigated the association between addictive Internet use during adolescence and heavy drinking and cigarette smoking in early adulthood. METHODS: We focused on middle school students from the Korea Youth Panel Study who were 15 in 2003:1804 who did not drink alcohol and 2277 who did not smoke...
December 15, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27958595/childhood-neurofibromatosis-type-2-nf2-and-related-disorders-from-bench-to-bedside-and-biologically-targeted-therapies
#13
M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27958212/association-of-bilateral-multiple-presumed-retinal-astrocytic-proliferations-with-combined-hamartoma-of-retina-and-retinal-pigment-epithelium-in-a-9-year-old-male-child-with-neurofibromatosis-type-2
#14
Pukhraj Rishi, Raj Shri Hirawat, Aditya Verma
Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid-periphery...
November 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27933429/establishing-the-values-for-patient-engagement-pe-in-health-related-quality-of-life-hrqol-research-an-international-multiple-stakeholder-perspective
#15
Kirstie Haywood, Anne Lyddiatt, Samantha J Brace-McDonnell, Sophie Staniszewska, Sam Salek
PURPOSE: Active patient engagement is increasingly viewed as essential to ensuring that patient-driven perspectives are considered throughout the research process. However, guidance for patient engagement (PE) in HRQoL research does not exist, the evidence-base for practice is limited, and we know relatively little about underpinning values that can impact on PE practice. This is the first study to explore the values that should underpin PE in contemporary HRQoL research to help inform future good practice guidance...
December 8, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27932840/should-dental-teams-be-doing-more-to-make-adolescents-aware-of-the-health-risks-of-water-pipe-tobacco-smoking-shisha
#16
D Wright, H Burrow, D Hurst
The prevalence of waterpipe tobacco smoking (also known as shisha, hookah, narghile or hubble bubble) is increasing worldwide and is especially popular among adolescents of all cultures, ethnicities and socio-economic backgrounds. This increased prevalence is thought to be due to a number of factors including the relationship between the social aspect of waterpipe smoking and a thriving café culture, lack of regulatory or policy framework specific to waterpipe use, the perception of reduced harm and the evolution of social media...
December 9, 2016: British Dental Journal
https://www.readbyqxmd.com/read/27932435/radical-resection-and-improvised-surgical-reconstruction-for-a-rare-malignant-triton-tumour-of-intercostal-nerve-in-a-patient-with-neurofibromatosis-type-1
#17
Ikram Ulhaq Chaudhry, Ahsan Iqbal Cheema, Hadi Mutari, Samir S Amr
A man aged 28 years, with neurofibromatosis type 1, presented with abdominal pain and visible right lower chest swelling. He had cutaneous neurofibromas and several café-au-lait spots. CT scan of the chest and abdomen revealed a giant mass most likely originating from the right 7th intercostal nerve, extending downwards into the abdomen causing massive hepatic compression. A Trucut biopsy showed malignant peripheral nerve sheath tumour. Radical surgical resection with wide margins was performed. The chest wall and diaphragm were reconstructed with improvised surgical technique with excellent results...
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27931983/noncompliance-to-smoke-free-law-which-hospitality-premises-are-more-prone
#18
P Ay, E Evrengil, M Guner, E Dagli
OBJECTIVES: In Turkey, smoking has been banned in hospitality establishments since July 2009. The objective of this study was to determine noncompliance to the smoke-free law and its change in 2 consecutive years in enclosed spaces of hospitality venues and also to evaluate the factors associated with noncompliance. STUDY DESIGN: This is an observational study. METHODS: Hospitality venues in Istanbul were visited, and data were collected through direct observation and interviews...
December 2016: Public Health
https://www.readbyqxmd.com/read/27925088/interdisciplinary-care-praxis-in-groups-of-people-living-with-fibromyalgia
#19
Nathália Aparecida Costa Guedes Miranda, Lina Márcia Miguéis Berardinelli, Vera Maria Sabóia, Irma da Silva Brito, Rosângela da Silva Santos
Objectives: to analyze the integrated community therapy model for the empowerment of people living with fibromyalgia and discuss the impact of this interdisciplinary intervention in the health-disease process and self-care. Method: a participatory-approach qualitative study, developed in 2015 with 11 participants at the Laboratory of Physiology Applied to Physical Education of the Rio de Janeiro State University, RJ. Data production comprised World Café, participant observation and semi-structured interview...
November 2016: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/27919261/caf%C3%A3-a-multicomponent-audit-and-feedback-intervention-to-improve-implementation-of-healthy-food-policy-in-primary-school-canteens-a-randomised-controlled-trial
#20
Sze Lin Yoong, Nicole Nathan, Luke Wolfenden, John Wiggers, Kathryn Reilly, Christopher Oldmeadow, Rebecca Wyse, Rachel Sutherland, Tessa Delaney, Peter Butler, Lisa Janssen, Sarah Preece, Christopher M Williams
BACKGROUND: The implementation of nutrition policies in schools has been recommended as a strategy to improve child dietary intake. Internationally, research suggests that the majority of schools do not implement these policies. In New South Wales (NSW), Australia, the NSW Healthy School Canteen Policy requires that school canteens prohibit the sale of 'red' foods (i.e. foods that are typically nutrient poor and high in energy, such as confectionary and deep-fried foods) and 'banned'drinks (i...
December 5, 2016: International Journal of Behavioral Nutrition and Physical Activity
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