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https://www.readbyqxmd.com/read/28531152/genetic-testing-among-children-in-a-complex-care-program
#1
Krista Oei, Robin Z Hayeems, Wendy J Ungar, Ronald D Cohn, Eyal Cohen
Little is known about the pattern of genetic testing and frequency of genetic diagnoses among children enrolled in structured complex care programs (CCPs). Such information may inform the suitability of emerging genome diagnostics for this population. The objectives were to describe the proportion of children with undiagnosed genetic conditions despite genetic testing and measure the testing period, types and costs of genetic tests used. A retrospective analysis of 420 children enrolled in Toronto's Hospital for Sick Children's CCP from January 2010 until June 2014 was conducted...
May 22, 2017: Children
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#2
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28522892/enhancing-communication-in-adults-with-dementia-and-age-related-hearing-loss
#3
REVIEW
Sara K Mamo, Esther Oh, Frank R Lin
For many adults with dementia, age-related hearing loss is undiagnosed and/or untreated. Untreated hearing loss can exacerbate common dementia-related behavioral symptoms, such as depression, apathy, agitation. Despite the potential benefits to the individual and the family, pursuing and adopting hearing aids for persons with dementia presents with many challenges. As such, this group of vulnerable older adults is well suited for alternative approaches that adopt an interventional audiology framework. This article reviews alternative hearing care models that we have tested when working with older adults with cognitive impairments...
May 2017: Seminars in Hearing
https://www.readbyqxmd.com/read/28522436/prognosis-of-undiagnosed-chest-pain-do-emergency-physicians-need-to-rethink-current-practice
#4
Edward Carlton
No abstract text is available yet for this article.
May 18, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28521786/role-of-routine-abdominal-ultrasonography-in-intensified-tuberculosis-case-finding-algorithms-at-hiv-clinics-in-high-tb-burden-settings
#5
Sonam Spalgais, Upasna Agarwal, Rohit Sarin, Devesh Chauhan, Anita Yadav, Anand Jaiswal
BACKGROUND: High proportion of TB in people living with HIV (PLHIV) is undiagnosed. Due to this active TB case finding is recommended for HIV clinics in high TB burden countries. Presently sputum examination and chest radiography are frontline tests recommended for HIV infected TB presumptives. Abdominal TB which occurs frequently in PLHIV may be missed even by existing programmatic intensified case finding protocols. This study evaluated the routine use of ultrasonography (USG) for active case finding of abdominal TB in HIV clinics...
May 18, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28515204/a-genetic-legacy-of-introgression-confounds-phylogeny-and-biogeography-in-oaks
#6
John D McVay, Andrew L Hipp, Paul S Manos
Oaks (Quercus L.) have long been suspected to hybridize in nature, and widespread genetic exchange between morphologically defined species is well documented in two- to six-species systems, but the phylogenetic consequences of hybridization in oaks have never been demonstrated in a phylogenetically diverse sample. Here, we present phylogenomic analyses of a ca 30 Myr clade that strongly support morphologically defined species and the resolution of novel clades of white oaks; however, historical hybridization across clade boundaries is detectable and, undiagnosed, would obscure the imprint of biogeographic history in the phylogeny...
May 17, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28514989/help-seeking-intentions-for-anxiety-among-older-adults
#7
Katrina Anderson, Tushara Wickramariyaratne, Annaliese Blair
Mental health practices are not working for older people with anxiety in residential care, as there is a persistent lack of recognition and treatment. This suggests that alternative ways of reaching and meeting the needs of this population need to be explored. One possibility involves enabling older adults themselves to seek help. The current work explored various factors impacting on help-seeking behaviours. In total, 105 participants from independent living units in a residential care setting completed a questionnaire focusing on attitudes and stigma towards anxiety, likelihood to seek help, help-seeking barriers and literacy around the symptoms of anxiety...
May 18, 2017: Australian Journal of Primary Health
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#8
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28511279/blast-associated-traumatic-brain-injury-in-the-military-as-a-potential-trigger-for-dementia-and-chronic-traumatic-encephalopathy
#9
James Hasoon
Traumatic brain injuries (TBIs) resulting from blast exposures have significantly affected US military personnel throughout the world, particularly in Iraq and Afghanistan. From 2000-2016, more than 350,000 military service members were diagnosed with a TBI. Since the majority of blast-related TBIs are classified as mild with no definitive findings on physical examination or diagnostic studies, it is difficult to accurately diagnose individuals inflicted with such injuries. There are likely far more mild TBIs that remain undiagnosed in the military...
January 2017: U.S. Army Medical Department Journal
https://www.readbyqxmd.com/read/28509748/iatrogenic-withdrawal-syndrome-or-undiagnosed-delirium
#10
Chani Traube, Gabrielle Silver
No abstract text is available yet for this article.
June 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28509514/lay-public-s-use-of-a-support-group-for-general-dental-problems
#11
K K Walker, R D Jackson
OBJECTIVE: To categorize and tabulate layperson inquiries made to an Internet dental health support site to identify oral conditions and associated behaviors of concern. METHODS: A retrospective tabulation of wall postings was made from an established dental health support website hosted by WebMD over a 2-year period (April 2013-April 2015). A mixed method approach of content and thematic analysis was used. Content analysis identified content of oral health concerns, while thematic analysis using grounded theory identified themes and beliefs concerning associated behaviors...
September 2016: Community Dental Health
https://www.readbyqxmd.com/read/28506046/interaction-between-trichomonas-vaginalis-and-the-prostate-epithelium
#12
Jung-Hyun Kim, Ik-Hwan Han, Sang-Su Kim, Soon-Jung Park, Duk-Young Min, Myoung-Hee Ahn, Jae-Sook Ryu
Most men infected with Trichomonas vaginalis are asymptomatic and can remain undiagnosed and untreated. This has been hypothesized to result in chronic persistent prostatic infection. Adhesion of the protozoan organisms to mucosal cells is considered a first and prerequisite step for T. vaginalis infection. Adhesion of T. vaginalis to prostate epithelial cells has not yet been observed; however, there are several reports about inflammation of prostate epithelial cells induced by T. vaginalis. The aim of this study was to investigate whether adhesion and cytotoxicity of T...
April 2017: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/28505240/incidence-of-gonorrhea-and-chlamydia-following-hiv-preexposure-prophylaxis-among-men-who-have-sex-with-men-a-modeling-study
#13
Samuel M Jenness, Kevin M Weiss, Steven M Goodreau, Thomas Gift, Harrell Chesson, Karen W Hoover, Dawn K Smith, Albert Y Liu, Patrick S Sullivan, Eli S Rosenberg
Background: Preexposure prophylaxis (PrEP) is highly effective for preventing HIV, but risk compensation (RC) in men who have sex with men (MSM) raises concerns about increased sexually transmitted infections (STIs). CDC's PrEP guidelines recommend biannual STI screening, which may reduce incidence by treating STIs that would otherwise remain undiagnosed. We investigated the impact of these two potentially counteracting phenomena. Methods: With a stochastic network-based mathematical model of HIV and rectal/urogenital Neisseria gonorrhoeae (NG) and Chlamydia trachomatis (CT) transmission dynamics among MSM in the United States, we simulated PrEP uptake following the prescription indications and HIV/STI screening recommendations in the CDC guidelines...
May 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28504785/addressing-noncommunicable-diseases-in-primary-care-the-case-of-type-2-diabetes
#14
K M Narayan, E C Rhodes
The rapid growth of noncommunicable diseases represents a formidable global health challenge. Here we use type 2 diabetes as a case study to illustrate the rise of noncommunicable diseases and call attention to the important role of primary care systems in addressing these diseases in low- and middle-income countries. Comprehensive screening for diabetes should be implemented through primary care systems to increase early detection of prediabetes and undiagnosed diabetes - a first step to diabetes prevention and management...
December 2016: Journal of the Royal College of Physicians of Edinburgh
https://www.readbyqxmd.com/read/28503870/correcting-hazard-ratio-estimates-for-outcome-misclassification-using-multiple-imputation-with-internal-validation-data
#15
Jiayi Ni, Aaron Leong, Kaberi Dasgupta, Elham Rahme
OBJECTIVE: Outcome misclassification may occur in observational studies using administrative databases. We evaluated a two-step multiple imputation approach based on complementary internal validation data obtained from two subsamples of study participants to reduce bias in hazard ratio (HR) estimates in Cox regressions. METHODS: We illustrated this approach using data from a surveyed sample of 6247 individuals in a study of statin-diabetes association in Quebec...
May 15, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28503761/diabetes-among-m%C3%A4-ori-women-with-self-reported-past-gestational-diabetes-mellitus-in-a-new-zealand-m%C3%A4-ori-community
#16
David Simmons, Shejil Kumar, Nic Crook, Elaine Rush
BACKGROUND: Gestational diabetes mellitus (GDM) is a risk factor for subsequent development of type 2 diabetes mellitus (T2DM). We have investigated the extent of this risk among Māori women without known diabetes. MATERIALS AND METHODS: We recruited 2786 Māori women aged 28-86 years between 2004 and 2006, without diagnosed diabetes from the Waikato and Southern Lakes regions, via media, community and general practitioner channels, and invited them for an oral glucose tolerance test (OGTT)...
May 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28502874/aerobic-vaginitis-no-longer-a-stranger
#17
Gilbert G G Donders, Gert Bellen, Svitrigaile Grinceviciene, Kateryna Ruban, Pedro Vieira-Baptista
Aerobic vaginitis (AV) is the name given in 2002 to a vaginal infectious entity which was not recognized as such before. It is characterized by abnormal (dysbiotic) vaginal microflora containing aerobic, enteric bacteria, variable levels of vaginal inflammation and deficient epithelial maturation. Although AV and bacterial vaginosis (BV) share some characteristics, such as a diminished number or absence of lactobacilli, increased discharge (fishy smelling in BV, while in severe forms of AV, a foul, rather rotten smell may be present) and increased pH (often more pronounced in AV), there are also striking differences between the two...
May 11, 2017: Research in Microbiology
https://www.readbyqxmd.com/read/28502522/human-herpesvirus-8-related-diseases-histopathologic-diagnosis-and-disease-mechanisms
#18
REVIEW
Matthew Auten, Annette S Kim, Kyle T Bradley, Flavia G Rosado
The emergence of HIV/AIDS more than three decades ago led to an increased incidence of diseases caused by HHV8 co-infection, particularly Kaposi sarcoma, primary effusion lymphoma, and multicentric Castleman disease. Over time, the development of highly effective AIDS therapies has resulted in a decreased incidence of HHV8-associated entities, which are now more commonly found in patients with undiagnosed and/or untreated AIDS. Due to their rarity, some of these diseases may be difficult to recognize without appropriate clinical information...
April 6, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28501562/a-joint-venture-model-of-recontacting-in-clinical-genomics-challenges-for-responsible-implementation
#19
Sandi Dheensa, Daniele Carrieri, Susan Kelly, Angus Clarke, Shane Doheny, Peter Turnpenny, Anneke Lucassen Dphil
Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews with patients were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs...
May 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28500245/pseudoacromegaly-an-unusual-presenting-manifestation-of-long-standing-undiagnosed-primary-hypothyroidism
#20
Partha Pratim Chakraborty, Rana Bhattacharjee, Ajitesh Roy, Subhankar Chowdhury
No abstract text is available yet for this article.
May 12, 2017: Postgraduate Medical Journal
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