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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#7
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27892845/learning-together-1-an-educational-model-for-training-gps-paediatricians-initial-findings
#8
Chloe Macaulay, John Spicer, Wendy Riches, Monica Lakhanpaul
Learning Together is primarily an educational intervention, where paediatric registrars [SpRs] and General Practice (GP) registrars [GPSTs] see children together in a primary care setting. Over a six month period in 2013/2014, 44 learning pairs were set up mainly in North East and Central London. Proof of concept for the model at scale was achieved. Reported learning demonstrated: clinical learning themes of new knowledge, skill and communication skills; and collaborative themes of ongoing collaboration, satisfaction with team working and change in attitudes...
November 28, 2016: Education for Primary Care
https://www.readbyqxmd.com/read/27890515/patterns-of-waterpipe-tobacco-smoking-among-u-s-young-adults-2013-2014
#9
Ramzi G Salloum, James F Thrasher, Kayla R Getz, Tracey E Barnett, Taghrid Asfar, Wasim Maziak
INTRODUCTION: Patterns of waterpipe smoking and associated other tobacco use were assessed among U.S. young adults (aged 18-24 years). METHODS: A descriptive analysis of baseline data (2013-2014) from the Population Assessment of Tobacco and Health Study was conducted in 2016. RESULTS: The study included 9,119 young adults-44% ever and 11% past-30 day waterpipe smokers (12% of men and 9% of women were past-30 day smokers). Among past-30 day smokers, waterpipe smoking frequency was distributed as follows: 4% daily, 23% weekly, 36% monthly, and 37% less than monthly...
November 24, 2016: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#10
Emily R Sites, Teresa A Smolarek, Lisa J Martin, David H Viskochil, David A Stevenson, Nicole J Ullrich, Ludwine M Messiaen, Elizabeth K Schorry
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27861482/-bloom-syndrome-clinical-manifestations-and-cromosomal-study-in-a-mexican-child
#11
Gloria María Rosales-Solis, César Adrián Martínez-Longoria, Guillermo Antonio Guerrero-González, Jorge Ocampo-Garza, Jorge Ocampo-Candiani
Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.
November 2016: Gaceta Médica de México
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#12
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27848418/a-safe-way-to-talk-about-death
#13
(no author information available yet)
Could a learning disability-specific death cafe be the key to initiating conversations about death and dying in a safe way? Paula Hopes writes in Learning Disability Practice about a conference on breaking bad news and noted that while some people with learning disabilities were ready to deal with the issues, healthcare professionals were not. Reasons varied from protecting people with learning disabilities to the assumption that they cannot cope with or understand the information. Ms Hopes says nurses should be advocates for people with learning disabilities and provide them with information to engage them in the process of dying...
November 9, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27824727/definition-of-a-putative-pathological-region-in-park2-associated-with-autism-spectrum-disorder-through-insilico-analysis-of-its-functional-structure
#14
Inês C Conceição, Maria M Rama, Bárbara Oliveira, Cátia Café, Joana Almeida, Susana Mouga, Frederico Duque, Guiomar Oliveira, Astrid M Vicente
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2...
November 7, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27815662/knowledge-and-self-esteem-of-individuals-with-neurofibromatosis-type-1-nf1
#15
Kayla Rosnau, S Shahrukh Hashmi, Hope Northrup, John Slopis, Sarah Noblin, Myla Ashfaq
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Additionally, a study published over 20 years ago found that overall knowledge of NF1 was lacking in individuals affected with the condition...
November 4, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27814406/nevus-spilus-is-the-presence-of-hair-associated-with-an-increased-risk-for-melanoma
#16
Robert M Gathings, Raveena Reddy, Ashish C Bhatia, Robert T Brodell
Nevus spilus (NS), also known as speckled lentiginous nevus, is characterized by background café au lait-like lentiginous melanocytic hyperplasia speckled with small, 1- to 3-mm, darker foci. Nevus spilus occurs in 1.3% to 2.3% of the adult population worldwide. Reports of melanoma arising within hypertrichotic NS suggest that hypertrichosis may be a marker for the development of melanoma. We present a case of a hypertrichotic NS without melanoma and also provide a review of previously reported cases of hypertrichosis in NS...
September 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27809763/mublastp-database-indexed-protein-sequence-search-on-multicore-cpus
#17
Jing Zhang, Sanchit Misra, Hao Wang, Wu-Chun Feng
BACKGROUND: The Basic Local Alignment Search Tool (BLAST) is a fundamental program in the life sciences that searches databases for sequences that are most similar to a query sequence. Currently, the BLAST algorithm utilizes a query-indexed approach. Although many approaches suggest that sequence search with a database index can achieve much higher throughput (e.g., BLAT, SSAHA, and CAFE), they cannot deliver the same level of sensitivity as the query-indexed BLAST, i.e., NCBI BLAST, or they can only support nucleotide sequence search, e...
November 4, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/27797996/factors-important-for-women-who-breastfeed-in-public-a-content-analysis-of-review-data-from-feedfinder
#18
Emma Simpson, Andrew Garbett, Rob Comber, Madeline Balaam
OBJECTIVE: To examine how the breastfeeding experience is represented by users of FeedFinder (a mobile phone application for finding, reviewing and sharing places to breastfeed in public). DESIGN: Content analysis using FeedFinder database. SETTING: FeedFinder, UK, September 2013-June 2015. METHODS: Reviews obtained through FeedFinder over a period of 21 months were systematically coded using a conventional content analysis approach, average review scores were calculated for the rating criteria in FeedFinder (comfort, hygiene, privacy, baby facilities) and review texts were analysed for sentiment...
October 24, 2016: BMJ Open
https://www.readbyqxmd.com/read/27779754/connections-between-constitutional-mismatch-repair-deficiency-syndrome-and-neurofibromatosis-type-1
#19
REVIEW
Katharina Wimmer, Thorsten Rosenbaum, Ludwine Messiaen
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have a high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but any of the diagnostic features of NF1 may be present in a CMMRD patient...
October 25, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27769524/dynamic-acquisition-of-htlv-1-tax-protein-by-mononuclear-phagocytes-role-in-neurologic-disease
#20
Eiji Matsuura, Yoshimi Enose-Akahata, Karen Yao, Unsong Oh, Yuetsu Tanaka, Hiroshi Takashima, Steven Jacobson
Pathology of HTLV-1 associated myelopathy/Tropical spastic paraparesis (HAM/TSP) is believed to be the result of "bystander damage" involving effector CD8 (+) T lymphocytes (CTLs) killing of virus infected cells. But the specific cellular events leading up to tissue injury are still unclear. Here, we developed the Microscopy Imaging of Cytotoxic T lymphocyte assay with Fluorescence emission (MI-CaFé), an optimized visualization analysis to explore the interactions between CTLs and virus infected or viral antigen presenting target cells...
October 3, 2016: Journal of Neuroimmunology
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