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https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#1
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28225381/information-seeking-behavior-and-information-needs-in-patients-with-amyotrophic-lateral-sclerosis-analyzing-an-online-patient-community
#2
Juyeon Oh, Jung A Kim
A few studies have examined the specific informational needs of the population with amyotrophic lateral sclerosis. The aims of this study were to describe the information-seeking behavior and information needs of patients with amyotrophic lateral sclerosis and their families in Korea by analyzing messages from an online patient community. A total of 1047 messages from the question and answer forum of the "Lou Gehrig's Disease Network" (http://cafe.daum.net/alsfree) from January 2010 to September 2015 were collected...
February 22, 2017: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/28217041/oostt-a-resource-for-analyzing-the-organizational-structures-of-trauma-centers-and-trauma-systems
#3
Joseph Utecht, John Judkins, J Neil Otte, Terra Colvin, Nicholas Rogers, Robert Rose, Maria Alvi, Amanda Hicks, Jane Ball, Stephen M Bowman, Robert T Maxson, Rosemary Nabaweesi, Rohit Pradhan, Nels D Sanddal, M Eduard Tudoreanu, Robert J Winchell, Mathias Brochhausen
Organizational structures of healthcare organizations has increasingly become a focus of medical research. In the CAFÉ project we aim to provide a web-service enabling ontology-driven comparison of the organizational characteristics of trauma centers and trauma systems. Trauma remains one of the biggest challenges to healthcare systems worldwide. Research has demonstrated that coordinated efforts like trauma systems and trauma centers are key components of addressing this challenge. Evaluation and comparison of these organizations is essential...
August 2016: CEUR Workshop Proceedings
https://www.readbyqxmd.com/read/28185851/assessment-of-micro-scale-anaerobic-digestion-for-management-of-urban-organic-waste-a-case-study-in-london-uk
#4
M Walker, H Theaker, R Yaman, D Poggio, W Nimmo, A Bywater, G Blanch, M Pourkashanian
This paper describes the analysis of an AD plant that is novel in that it is located in an urban environment, built on a micro-scale, fed on food and catering waste, and operates as a purposeful system. The plant was built in 2013 and continues to operate to date, processing urban food waste and generating biogas for use in a community café. The plant was monitored for a period of 319days during 2014, during which the operational parameters, biological stability and energy requirements of the plant were assessed...
February 6, 2017: Waste Management
https://www.readbyqxmd.com/read/28167303/psychological-and-lifestyle-factors-that-influence-the-serial%C3%A2-reporting-of-postconcussion-like-symptoms-in-a-nonconcussed-population
#5
Arun Prasad Balasundaram, Josie Athens, Anthony Gerard Schneiders, Paul McCrory, Stephen John Sullivan
BACKGROUND: Symptoms related to concussion are generally found to be nonspecific in nature, as they are also reported by nonconcussed individuals. What is currently not known is whether the symptoms vary over time, and whether they are also influenced by a multitude of factors. OBJECTIVE: The aim of this study was to investigate the potential influence of psychological, lifestyle, and situational factors on the change in postconcussion-like symptoms reported over 7 consecutive days in a cohort of normal individuals...
February 4, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28164079/short-stature-and-growth-hormone-deficiency-in-a-girl-with-encephalocraniocutaneous-lipomatosis-and-jaffe-campanacci-syndrome-a-case-report
#6
Eun Mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28163183/a-femoral-common-vein-aneurysm-in-a-patient-with-neurofibromatosis-syndrome-type-1
#7
C Seinturier, S Blaise, F Thony, J L Magne, G Pernod
Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Vascular abnormalities in NF1 are rare but have also been well described. The most frequent abnormalities are characterized by arterial aneurysm degeneration, stenosis, and malformations...
February 2, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28161982/do-you-come-here-often-the-idea-of-a-death-caf%C3%A3
#8
Brian Nyatanga
No abstract text is available yet for this article.
February 2, 2017: British Journal of Community Nursing
https://www.readbyqxmd.com/read/28160726/acute-norovirus-gastroenteritis-in-children-in-a-highly-rotavirus-vaccinated-population-in-northeast-brazil
#9
Victor S Santos, Ricardo Q Gurgel, Sandra M M Cavalcante, Andrew Kirby, Lilian P Café, Maria J Souto, Silvio S Dolabella, Matheus R de Assis, Tulio M Fumian, Marize P Miagostovich, Nigel A Cunliffe, Luis E Cuevas
BACKGROUND: Gastroenteritis is one of the most important causes of morbidity and mortality in children and an important etiological agent is norovirus. OBJECTIVE: We describe the occurrence and characteristics of norovirus diarrhoea in children from Sergipe, Northeast-Brazil, over two consecutive periods of three years following rotavirus vaccine introduction. STUDY DESIGN: A cross sectional hospital-based survey conducted from October-2006 to September-2009 and from July-2011 to January-2013...
March 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28126097/spaces-of-encounter-and-attitudes-towards-difference-a-comparative-study-of-two-european-cities
#10
Aneta Piekut, Gill Valentine
Scholars have been increasingly interested in how everyday interactions in various places with people from different ethnic/religious background impact inter-group relations. Drawing on representative surveys in Leeds and Warsaw (2012), we examine whether encounters with ethnic and religious minorities in different type of space are associated with more tolerance towards them. We find that in Leeds, more favourable affective attitudes are associated with contact in institutional spaces (workplace and study places) and socialisation spaces (social clubs, voluntary groups, religious meeting places); however, in case of behavioural intentions - operationalised as willingness to be friendly to minority neighbours - only encounters in socialisation spaces play a significant role in prejudice reduction...
February 2017: Social Science Research
https://www.readbyqxmd.com/read/28125484/discussing-death-over-coffee-and-cake-the-emergence-of-the-death-caf%C3%A3
#11
Roxanne Nelson
A growing phenomenon helps normalize an uncomfortable topic.
February 2017: American Journal of Nursing
https://www.readbyqxmd.com/read/28110519/examining-the-nutritional-quality-of-food-and-beverage-consumed-at-melbourne-aquatic-and-recreation-centres
#12
Tara Boelsen-Robinson, Alexandra Chung, Marianne Khalil, Evelyn Wong, Ariana Kurzeme, Anna Peeters
OBJECTIVE: Examine the nutritional quality of food and beverages consumed across a sample of community aquatic and recreation centres in metropolitan Melbourne, Australia. METHODS: Interviewer-administered surveys of randomly selected patrons attending four aquatic and recreation centres were conducted to ascertain food and beverage items consumed over two data collection periods (May-June 2014, January-February 2015). We selected centres in and around metropolitan Melbourne with a sit-down cafeteria and children's swimming classes...
January 22, 2017: Australian and New Zealand Journal of Public Health
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
#13
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
#14
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
#15
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
#16
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...
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
#17
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
#18
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...
February 2017: 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
#19
Yong Yao, Yang Liu, Linjie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen, Huijuan 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...
March 2017: 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
#20
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
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