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https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#1
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28937931/design-and-development-of-a-mobile-exercise-application-for-home-care-aides-and-older-adult-medicaid-home-and-community-based-clients
#2
Margaret Danilovich, Laura Diaz, Gustavo Saberbein, William Healey, Gail Huber, Daniel Corcos
We describe a community-engaged approach with Medicaid Home and Community-Based Services (HCBS) home care aide (HCA), client, and physical therapist stakeholders to develop a mobile application (app) exercise intervention through focus groups and interviews. Participants desired a short exercise program with modification capabilities, goal setting, and mechanisms to track progress. Concerns regarding participation were training needs and feasibility within usual care services. Technological preferences were for simple, easy-to-use, and engaging content...
September 22, 2017: Home Health Care Services Quarterly
https://www.readbyqxmd.com/read/28937447/community-general-pediatricians-perspectives-on-providing-autism-diagnoses-in-ontario-canada-a-qualitative-study
#3
Melanie Penner, Gillian A King, Laura Hartman, Evdokia Anagnostou, Michelle Shouldice, Charlotte Moore Hepburn
OBJECTIVE: Community general pediatricians (CGPs) are a potential resource to increase capacity for autism spectrum disorder (ASD) diagnostic assessments. The objective of this study was to explore factors influencing CGPs' perspectives on and practices of providing ASD diagnoses. METHODS: This qualitative study used a constructivist modified grounded theory approach. Participants included CGPs who had attended ASD educational events or had referred a child with suspected ASD to a tertiary rehabilitation center...
August 1, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28937303/palliative-coverage-of-cranial-defect-following-failed-cranial-flap-for-advanced-squamous-cell-carcinoma-case-report
#4
Vyacheslav Makler, Jeffrey S Litt, N Scott Litofsky
INTRODUCTION: With advanced-stage head and neck cancers, patients may develop large and/or complex wounds despite multiple reconstruction attempts. Wound coverage may require novel approaches to palliate the patient. METHOD: We present the case of a 56-year-old female with advanced squamous cell carcinoma of the scalp and skull who required multiple surgical interventions. Despite our best reconstructive efforts, the patient subsequently developed scalp infection and sepsis, necessitating further debridement for source control...
September 22, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28937148/transition-from-paediatric-to-adult-ophthalmology-services-what-matters-most-to-young-people-with-visual-impairment
#5
A O Robertson, V Tadić, J S Rahi
PurposeTo identify the views and experiences and thus the transition-related needs of young people with visual impairment (VI), so as to inform future practice and policies.Patients and methodsQualitative study of 17 young people aged 16-19 years (ie the conventional transition age threshold) with VI (best-corrected acuity logMAR worse than 0.48) and without additional impairments, drawn from a sampling frame of paediatric ophthalmology patients attending Great Ormond Street Hospital and Moorfields Eye Hospital (London, UK)...
September 22, 2017: Eye
https://www.readbyqxmd.com/read/28937083/infantile-cystinosis-from-dialysis-to-renal-transplantation
#6
Manel Jellouli, Meriem Ferjani, Kamel Abidi, Chokri Zarrouk, Jaouida Abdelmoula, Tahar Gargah
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28936423/development-and-evaluation-of-a-wheelchair-service-provision-training-of-trainers-programme
#7
Sara Munera, Mary Goldberg, Krithika Kandavel, Jonathan Pearlman
BACKGROUND: In many countries, availability of basic training and continued professional development programmes in wheelchair services is limited. Therefore, many health professionals lack access to formal training opportunities and new approaches to improve wheelchair service provision. To address this need, the World Health Organization (WHO) developed the WHO Wheelchair Service Training of Trainers Programme (WSTPt), aiming to increase the number of trainers who are well prepared to deliver the WHO Wheelchair Service Training Packages...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28936421/a-conceptual-framework-to-assess-effectiveness-in-wheelchair-provision
#8
Deepan C Kamaraj, Nathan Bray, Karen Rispin, Padmaja Kankipati, Jonathan Pearlman, Johan Borg
BACKGROUND: Currently, inadequate wheelchair provision has forced many people with disabilities to be trapped in a cycle of poverty and deprivation, limiting their ability to access education, work and social facilities. This issue is in part because of the lack of collaboration among various stakeholders who need to work together to design, manufacture and deliver such assistive mobility devices. This in turn has led to inadequate evidence about intervention effectiveness, disability prevalence and subsequent costeffectiveness that would help facilitate appropriate provision and support for people with disabilities...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28936419/motivation-peer-training-bridging-the-gap-for-people-with-mobility-disabilities
#9
Lucy K Norris
BACKGROUND: Only 2% of people with disabilities in developing countries have access to basic services and rehabilitation. OBJECTIVES: To bridge this gap, Motivation has been running Peer Training activities since 1993 and has identified that there is a growing need for Peer Training. The overall aim of Peer Training is for wheelchair users (Peer Trainers) to provide others (with similar disabilities) with the relevant knowledge on health issues, rights and skills to achieve a basic level of independence and greater quality of life...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28936415/wheelchair-service-provision-education-in-academia
#10
Karen H Fung, Paula W Rushton, Rachel Gartz, Mary Goldberg, Maria L Toro, Nicky Seymour, Jonathan Pearlman
BACKGROUND: An estimated 70 million people with disabilities need wheelchairs. To address this global crisis, the World Health Organization (WHO) proposed an eight-step wheelchair service provision model to ensure service quality regardless of resource setting. The International Society of Wheelchair Professionals (ISWP) aims to facilitate the integration of the WHO eight-step model into professional rehabilitation programmes. OBJECTIVE: To develop an enhanced understanding of the current wheelchair service provision education provided in professional rehabilitation programmes worldwide...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28936370/military-families-perceptions-of-neighborhood-characteristics-affecting-reintegration-development-of-an-aggregate-measure
#11
Sarah Beehler, Jennifer Ahern, Brandi Balmer, Jennifer Kuhlman
This pilot study evaluated the validity and reliability of an Experience of Neighborhood (EON) measure developed to assess neighborhood characteristics that shape reintegration opportunities for returning service members and their families. A total of 91 post-9/11 veterans and spouses completed a survey administered at the Minnesota State Fair. Participants self-reported on their reintegration status (veterans), social functioning (spouses), social support, and mental health. EON factor structure, internal consistency reliability, and validity (discriminant, content, criterion) were analyzed...
2017: Military Behavioral Health
https://www.readbyqxmd.com/read/28936272/hereditary-gynaecologic-cancers-in-nepal-a-proposed-model-of-care-to-serve-high-risk-populations-in-developing-countries
#12
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
BACKGROUND: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. There is no specific model for identification and management of such women in the developing world. METHODS: We have integrated data from our published audit of a major gynaecological oncology centre at Royal Hospital for Women in Australia, with data from our survey and a focus group discussion of Nepalese gynaecological health care professionals regarding genetic testing, and findings from the literature...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28936233/general-practitioners-experiences-and-perceptions-of-mild-moderate-depression-management-and-factors-influencing-effective-service-delivery-in-rural-australian-communities-a-qualitative-study
#13
Tamishka De Silva, Anjali Prakash, Sandhya Yarlagadda, Marjia Daniella Johns, Kate Sandy, Vibeke Hansen, Sue Phelan, Sabrina Pit
BACKGROUND: Rural communities in Australia face significant disadvantages relating to geographical isolation and limited access to mental health services. Documenting general practitioners' (GP) experiences and perception of mental health services in rural Australia may be useful to gain insight into rural GP management of mild to moderate depression. AIMS: To explore GPs' experience and views on which factors influence access to mental health services for mild to moderate depression...
2017: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/28936223/oomycete-communities-associated-with-reed-die-back-syndrome
#14
Martina Cerri, Rumakanta Sapkota, Andrea Coppi, Valentina Ferri, Bruno Foggi, Daniela Gigante, Lorenzo Lastrucci, Roberta Selvaggi, Roberto Venanzoni, Mogens Nicolaisen, Francesco Ferranti, Lara Reale
Phragmites australis (Cav.) Trin. ex Steud. die-back is a widely-studied phenomenon that was first discovered in northern Europe and that, until recently, was almost unknown in the Mediterranean basin. It has been described as a complex syndrome affecting reed populations leading to their retreat and decline, with significant impacts on valuable ecosystem services. Among the factors that cause the decline, soil-living microorganisms can be crucial. The aims of this study were to analyze the diversity of oomycetes communities associated with reed stands, and to understand whether they could play a key role in the decline...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28935515/template-for-an-antibiotic-stewardship-policy-for-post-acute-and%C3%A2-long-term-care-settings
#15
Robin L P Jump, Swati Gaur, Morgan J Katz, Christopher J Crnich, Ghinwa Dumyati, Muhammad S Ashraf, Elizabeth Frentzel, Steven J Schweon, Philip Sloane, David Nace
In response to a rising concern for multidrug resistance and Clostridium difficile infections, the Centers for Medicare and Medicaid services (CMS) will require all long-term care (LTC) facilities to establish an antibiotic stewardship program by November 2017. Thus far, limited evidence describes implementation of antibiotic stewardship in LTC facilities, mostly in academic- or hospital-affiliated settings. To support compliance with CMS requirements and aid facilities in establishing a stewardship program, the Infection Advisory Committee at AMDA-The Society for Post-Acute and Long-Term Care Medicine, has developed an antibiotic stewardship policy template tailored to the LTC setting...
September 18, 2017: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/28935163/optimising-the-diagnosis-of-prostate-cancer-in-the-era-of-multiparametric-magnetic-resonance-imaging-a-cost-effectiveness-analysis-based-on-the-prostate-mr-imaging-study-promis
#16
Rita Faria, Marta O Soares, Eldon Spackman, Hashim U Ahmed, Louise C Brown, Richard Kaplan, Mark Emberton, Mark J Sculpher
BACKGROUND: The current recommendation of using transrectal ultrasound-guided biopsy (TRUSB) to diagnose prostate cancer misses clinically significant (CS) cancers. More sensitive biopsies (eg, template prostate mapping biopsy [TPMB]) are too resource intensive for routine use, and there is little evidence on multiparametric magnetic resonance imaging (MPMRI). OBJECTIVE: To identify the most effective and cost-effective way of using these tests to detect CS prostate cancer...
September 18, 2017: European Urology
https://www.readbyqxmd.com/read/28935130/determining-palliative-care-penetration-rates-in-the-acute-care-setting
#17
Heidi Gruhler, April Krutka, Hannah Luetke-Stahlman, Emmie Gardner
CONTEXT: Intermountain Healthcare, in collaboration with Cerner Corporation, developed a hospital-based electronic palliative care algorithm to improve identification of patients who would benefit from palliative care services. METHODS: This study used a mixed-methods non-randomized retrospective study design. Three 30-day iterations of clinical data were analyzed for patients identified by the electronic algorithm. During the second and third 30-day iteration, palliative care clinicians conducted weekly chart reviews for identified patients and determined whether the patients were appropriate for a palliative care consult...
September 18, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28934777/effectiveness-of-thermal-annular-procedures-in-treating-discogenic-low-back-pain
#18
Standiford Helm Ii, Thomas T Simopoulos, Milan Stojanovic, Salahadin Abdi, Mohamed Ahamed El Terany
BACKGROUND: Discogenic low back is a distinct clinic entity characterized by pain arising from a damaged disc. The diagnosis is clouded by the controversy surrounding discography. The treatment options are limited, with unsatisfactory results from both conservative treatment and surgery. Multiple interventional therapies have been developed to treat discogenic pain, but most have not yet been validated by high quality studies.The best studied treatment for discogenic pain is the use of heat, which has been labeled as thermal intradiscal procedures (TIPs) by the Centers for Medicare and Medicaid Services (CMS)...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934764/assessment-of-training-capacity-in-new-zealand-general-practices-a-stocktake-in-the-lower-north-island-and-south-island
#19
Samantha A Murton, Susan Rh Pullon
AIM: General practices are providing clinically-based training for rapidly increasing numbers of medical (and other health professional) trainees. This study investigated capacity and intention of general practices to additionally teach junior doctors (now required to undertake community-based attachments by the New Zealand Medical Council) alongside current trainees in their service. METHODS: A web-based/telephone survey of all general practices was developed and administered November 2015-April 2016...
September 22, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28934488/de-novo-pathway-based-biomarker-identification
#20
Nicolas Alcaraz, Markus List, Richa Batra, Fabio Vandin, Henrik J Ditzel, Jan Baumbach
Gene expression profiles have been extensively discussed as an aid to guide the therapy by predicting disease outcome for the patients suffering from complex diseases, such as cancer. However, prediction models built upon single-gene (SG) features show poor stability and performance on independent datasets. Attempts to mitigate these drawbacks have led to the development of network-based approaches that integrate pathway information to produce meta-gene (MG) features. Also, MG approaches have only dealt with the two-class problem of good versus poor outcome prediction...
September 19, 2017: Nucleic Acids Research
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