keyword
https://read.qxmd.com/read/36644891/xatlas-scalable-small-variant-calling-across-heterogeneous-next-generation-sequencing-experiments
#21
JOURNAL ARTICLE
Jesse Farek, Daniel Hughes, William Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger Metcalf, Eric Boerwinkle, Donna M Muzny, Richard Gibbs, Ziad Khan, Fritz J Sedlazeck
BACKGROUND: The growing volume and heterogeneity of next-generation sequencing (NGS) data complicate the further optimization of identifying DNA variation, especially considering that curated high-confidence variant call sets frequently used to validate these methods are generally developed from the analysis of comparatively small and homogeneous sample sets. FINDINGS: We have developed xAtlas, a single-sample variant caller for single-nucleotide variants (SNVs) and small insertions and deletions (indels) in NGS data...
December 28, 2022: GigaScience
https://read.qxmd.com/read/36477620/gender-differences-in-connecting-veterans-to-care-through-the-veterans-crisis-line-a-mixed-methods-evaluation-of-referrals-to-suicide-prevention-coordinators
#22
JOURNAL ARTICLE
Lauren S Krishnamurti, Aneeza Agha, Lauren M Denneson, Ann E Montgomery, Sumedha Chhatre, Melissa E Dichter
BACKGROUND: Suicide is a major public health crisis within the US military veteran community, with distinct gender differences in suicide risk and behavior. The Veterans Crisis Line (VCL) is a component of the Veterans Health Administration (VHA) suicide prevention program; through VCL, veterans may be referred to a VHA Suicide Prevention Coordinator (SPC) to arrange follow-up care. Research shows that engagement with an SPC is a strong protective factor in reducing veteran suicide risk...
January 1, 2023: Medical Care
https://read.qxmd.com/read/36413955/cost-benefit-assessment-of-shore-side-electricity-an-irish-perspective
#23
JOURNAL ARTICLE
Ketan Gore, Patrick Rigot-Müller, Joseph Coughlan
This study, based on 2019 data, investigates the cost-effectiveness of Shore Side Electricity (SSE) adoption utilising the existing and future (2030) Irish energy mix, while considering different levels of adoption across six scenarios, incorporating both "port-side" and "ship-side" private costs alongside the benefits from reduced external costs and avoided Auxiliary Engine (AE) fuel costs. Passenger ships calling to the two most populated Irish port cities of Dublin and Belfast were selected as the case study, owing to the significance of such ports and ship types in the Irish maritime economy...
November 19, 2022: Journal of Environmental Management
https://read.qxmd.com/read/36280214/impact-of-covid-19-on-barriers-to-dispatcher-assisted-cardiopulmonary-resuscitation-in-adult-out-of-hospital-cardiac-arrests-in-singapore
#24
REVIEW
Shir Lynn Lim, Cherylyn Toh, Stephanie Fook-Chong, Muhammad Yazid, Nur Shahidah, Qin Xiang Ng, Andrew Fw Ho, Shalini Arulanandam, Benjamin Sh Leong, Alexander E White, Marcus Eh Ong
OBJECTIVE: Fewer out-of-hospital cardiac arrest (OHCA) patients received bystander cardiopulmonary resuscitation during the COVID-19 pandemic in Singapore. We investigated the impact of COVID-19 on barriers to dispatcher-assisted cardiopulmonary resuscitation (DA-CPR). METHODS: We reviewed audio recordings of all calls to our national ambulance service call centre during the pandemic (January-June 2020) and pre-pandemic (January-June 2019) periods. Our primary outcome was the presence of barriers to DA-CPR...
December 2022: Resuscitation
https://read.qxmd.com/read/36245698/a-retrospective-review-of-rabies-post-exposure-prophylaxis-queries-south-africa-2016-2019
#25
JOURNAL ARTICLE
Trisha A Whitbread, Kathleen J Kabuya, Nimesh Naran, Amilcar M Juggernath, Moushumi A Mathews, Lucille H Blumberg, Jacqueline Weyer, Vivien Essel
Background: The National Institute for Communicable Diseases (NICDs) of South Africa (SA) provides technical support to healthcare workers (HCWs) with regard to infectious diseases through the NICD clinician hotline. Queries to the hotline are often about rabies prophylaxis. An analysis of these queries may help to identify knowledge gaps amongst HCWs regarding prevention of rabies in humans in SA. Methods: A retrospective descriptive review was conducted to analyse rabies post-exposure prophylaxis (PEP) queries received by the NICD from 01 January 2016 to 31 December 2019...
2022: Southern African Journal of Infectious Diseases
https://read.qxmd.com/read/36158348/next-generation-sequencing-highlights-of-diffuse-large-b-cell-lymphoma-in-a-tertiary-care-hospital-in-north-india
#26
JOURNAL ARTICLE
Garima Mamgain, Manisha Naithani, Priyanka Patra, Mukesh Mamgain, Sikha Morang, Jhasketan Nayak, Karthik Kumar, Shashikant Singh, Anamika Bakliwal, Ashok Rajoreya, Sudeep Vaniyath, Debranjani Chattopadhyay, Rituparna Chetia, Arvind Gupta, Gaurav Dhingra, Deepak Sundriyal, Uttam Kumar Nath
INTRODUCTION: Next-generation sequencing (NGS) elucidates the diffuse large B-cell lymphoma (DLBCL) genetic characteristics by finding recurrent and novel somatic mutations. This observational study attempted to create an NGS panel with a focus on identifying novel somatic mutations which could have potential clinical and therapeutic implications. This panel was created to look for mutations in 133 genes chosen on basis of a literature review and it was used to sequence the tumor DNA of 20 DLBCL patients after a centralized histopathologic review...
August 2022: Curēus
https://read.qxmd.com/read/36097377/male-rock-hyraxes-that-maintain-an-isochronous-song-rhythm-achieve-higher-reproductive-success
#27
JOURNAL ARTICLE
Vlad Demartsev, Michal Haddas-Sasson, Amiyaal Ilany, Lee Koren, Eli Geffen
Rhythmic stability (nonrandom temporal structure) is required for many neural and physiological functions, whereas rhythmic irregularities can indicate genetic or developmental deficiencies. Therefore, rhythmic courtship or contest signals are widespread in nature as honest advertisement displays. Examination of bird songs revealed the pervasiveness of categorical rhythmic patterns that can be described as small integer ratios between sequential inter-call intervals. As similar rhythmic profiles are prevalent in human music, it was suggested that a shared functionality could drive both animal songs and human musical rhythms, facilitating synchrony between signallers and enabling easy identification of performance errors...
September 12, 2022: Journal of Animal Ecology
https://read.qxmd.com/read/35875007/challenges-and-enablers-for-smartphone-use-by-persons-with-vision-loss-during-the-covid-19-pandemic-a-report-of-two-case-studies
#28
Suraj Singh Senjam, Susan A Primo
Purpose: Studies have reported that knowledge and skills to operate smartphones among people with profound visual loss are limited especially in low- to middle-income countries as many important functions of smartphones are unknown to them. This report presents smartphone use, its challenges, and enablers in two persons with profound visual impairment while executing their daily routine and instrumental living activities amidst the COVID-19 pandemic. Case selection and interview: During the lockdown period, we provided tele (vision) rehabilitation service...
2022: Frontiers in Public Health
https://read.qxmd.com/read/35777179/utility-of-interactive-voice-response-self-monitoring-in-stabilizing-initial-change-during-natural-recovery-attempts-among-persons-with-alcohol-use-disorder
#29
JOURNAL ARTICLE
JeeWon Cheong, Jalie A Tucker
BACKGROUND: Providing extensive low threshold, low intensity interventions during self-initiated recovery attempts may help to stabilize initial change during early recovery when relapse risk is high. This study provided untreated persons with alcohol use disorder (AUD) daily access to an interactive voice response (IVR) self-monitoring system during the early months of a natural recovery attempt to report drinking-related variables. The study prospectively examined event-level associations among IVR call frequency, urges to drink, and drinking practices to evaluate whether more frequent IVR utilization helped participants to manage urges and attenuated the established relationship between urges and relapse...
September 2022: Journal of Substance Abuse Treatment
https://read.qxmd.com/read/35749574/maxhic-a-robust-background-correction-model-to-identify-biologically-relevant-chromatin-interactions-in-hi-c-and-capture-hi-c-experiments
#30
JOURNAL ARTICLE
Hamid Alinejad-Rokny, Rassa Ghavami Modegh, Hamid R Rabiee, Ehsan Ramezani Sarbandi, Narges Rezaie, Kin Tung Tam, Alistair R R Forrest
Hi-C is a genome-wide chromosome conformation capture technology that detects interactions between pairs of genomic regions and exploits higher order chromatin structures. Conceptually Hi-C data counts interaction frequencies between every position in the genome and every other position. Biologically functional interactions are expected to occur more frequently than transient background and artefactual interactions. To identify biologically relevant interactions, several background models that take biases such as distance, GC content and mappability into account have been proposed...
June 24, 2022: PLoS Computational Biology
https://read.qxmd.com/read/35689425/exploring-experiences-of-a-telephone-crisis-support-workplace-training-program-in-australia
#31
JOURNAL ARTICLE
Amanda Gilmore, Rowena Saheb, Arianne Reis
Telephone crisis support (TCS) is considered by the World Health Organization to be an integral part of an effective suicide prevention framework. However, as TCS lines worldwide are primarily staffed by volunteers, they frequently experience high staff turnover impacting on their ability to provide crucial crisis counselling to the population. One group that has been identified as potentially lessening staff shortages is university students, who may be attracted to TCS as a way to gain professional experience and qualifications...
June 11, 2022: Health & Social Care in the Community
https://read.qxmd.com/read/35612119/out-of-hospital-cardiac-arrest-detection-by-machine-learning-based-on-the-phonetic-characteristics-of-the-caller-s-voice
#32
JOURNAL ARTICLE
Sonia Rafi, Cedric Gangloff, Etienne Paulhet, Ollivier Grimault, Louis Soulat, Guillaume Bouzillé, Marc Cuggia
INTRODUCTION: Out-of-hospital cardiac arrest (OHCA) is a major public health issue. The prognosis is closely related to the time from collapse to return of spontaneous circulation. Resuscitation efforts are frequently initiated at the request of emergency call center professionals who are specifically trained to identify critical conditions over the phone. However, 25% of OHCAs are not recognized during the first call. Therefore, it would be interesting to develop automated computer systems to recognize OHCA on the phone...
May 25, 2022: Studies in Health Technology and Informatics
https://read.qxmd.com/read/35591902/quantifying-the-population-burden-of-musculoskeletal-disorders-including-impact-on-sickness-absence-analysis-of-national-scottish-data
#33
JOURNAL ARTICLE
Karen Walker-Bone, Helen Storkey, Julie Peacock, Benjamin Ellis, Michael Ly, Jonathan Hill, James O'Malley
Objectives: Musculoskeletal disorders (MSDs) account for the greatest burden of years lived with disability globally. To prevent disability, good-quality services need to be commissioned, appropriate for local need. We analysed data collected systematically from a new musculoskeletal service serving 70% of the population of Scotland to evaluate: age- and sex-specific occurrence; anatomical distribution; and impact and effect on work ability. Methods: A new centralized telephone-based triage for people with musculoskeletal disorders was set up in Scotland in 2015...
2022: Rheumatology Advances in Practice
https://read.qxmd.com/read/35487287/is-tele-diagnosis-of-dental-conditions-reliable-during-covid-19-pandemic-agreement-between-tentative-diagnosis-via-synchronous-audioconferencing-and-definitive-clinical-diagnosis
#34
JOURNAL ARTICLE
Shaymaa Abdulreda Ali, Walid El Ansari
OBJECTIVES: To assess the reliability of synchronous audioconferencing teledentistry (TD) in making tentative diagnosis compared to definitive clinical face-to-face (CFTF) diagnosis; and whether agreement was influenced by dentist's experience, caller-patient relationship, and time of call. METHODS: All patients calling the TD hotline during COVID-19 pandemic, triaged as emergency/ urgent and referred for CFTF care were included (N=191). Hotline dentists triaged the calls, made tentative audio-dentistry (AD) diagnosis, while dentists at point of referral made the definitive CFTF diagnosis...
April 26, 2022: Journal of Dentistry
https://read.qxmd.com/read/35433014/analyzing-program-data-and-promotional-approaches-to-inform-best-practices-from-a-mobile-phone-based-reproductive-health-message-program-in-afghanistan
#35
JOURNAL ARTICLE
Lara Lorenzetti, Kate F Plourde, Sayed Haroon Rastagar, Arzoo S Afzali, Ahmad S Sultani, Abdul Khaleq Khalil, Abdul Waheed Adeeb, Shafiqullah Hemat, Catherine S Todd
Objective: Digital health technologies have contributed to the adoption of beneficial reproductive, maternal, newborn, and child health (RMNCH) behaviors through social and behavior change programming, including in hard-to-reach settings. On-demand digital health interventions rely on promotions to build awareness and increase use among target audiences. There is little research on preferred content and use of promotional approaches for RMNCH digital health activities. Methods: We conducted a retrospective descriptive analysis of Mobile for Reproductive Health (m4RH) data in Afghanistan to assess the use and changes in call volume via the 2-3-4 platform by promotional approaches over 23 months between October 2017 and August 2019...
January 2022: Digital Health
https://read.qxmd.com/read/35417562/daily-cannabis-use-is-a-barrier-to-tobacco-cessation-among-tobacco-quitline-callers-at-7-month-follow-up
#36
JOURNAL ARTICLE
Renee D Goodwin, Alina Shevorykin, Ellen Carl, Alan J Budney, Cheryl Rivard, Melody Wu, Erin McClure, Andrew Hyland, Christine E Sheffer
INTRODUCTION: Cannabis use is increasing among cigarette smokers in the United States (US). Prior studies suggest that cannabis use may be a barrier to smoking cessation. Yet, the extent to which this is the case among adults seeking to quit tobacco use remains unclear. Tobacco quitlines are the most common provider of no-cost treatment for adults who use smoke in the US. This study investigated the association of cannabis use with smoking cessation outcomes among Quitline callers. METHODS: Participants included callers to the New York State Smokers' Quitline, who were seeking to quit smoking cigarettes and were contacted for outcome assessment 7 months after intake...
April 13, 2022: Nicotine & Tobacco Research
https://read.qxmd.com/read/35351702/strategies-to-manage-emergency-ambulance-telephone-callers-with-sustained-high-needs-an-evaluation-using-linked-data-stretched-a-study-protocol
#37
JOURNAL ARTICLE
Rabeea'h W Aslam, Helen Snooks, Alison Porter, Ashrafunnesa Khanom, Robert Cole, Adrian Edwards, Bethan Edwards, Bridie Angela Evans, Theresa Foster, Rachael Fothergill, Penny Gripper, Ann John, Robin Petterson, Andy Rosser, Anna Tee, Bernadette Sewell, Heather Hughes, Ceri Phillips, Nigel Rees, Jason Scott, Alan Watkins
INTRODUCTION: UK ambulance services have identified a concern with high users of the 999 service and have set up 'frequent callers' services, ranging from within-service management to cross-sectoral multidisciplinary case management approaches. There is little evidence about how to address the needs of this patient group. AIM: To evaluate effectiveness, safety and efficiency of case management approaches to the care of people who frequently call the emergency ambulance service, and gain an understanding of barriers and facilitators to implementation...
March 29, 2022: BMJ Open
https://read.qxmd.com/read/35086356/systematic-review-of-research-and-interventions-with-frequent-callers-to-suicide-prevention-helplines-and-crisis-centers
#38
JOURNAL ARTICLE
Brian L Mishara, Louis-Philippe Côté, Luc Dargis
<b/> Background: Helplines worldwide have frequent callers who may occupy a large proportion of call volume. Therapeutic gain from frequent calling has been questioned. We conducted this review to identify the characteristics of frequent callers and to compile recommendations about how best to help them. Method: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) standards, we searched for all empirical research in English and French from inception to May, 2020 in PubMed, PsycInfo, and the CRISE library...
January 28, 2022: Crisis
https://read.qxmd.com/read/34966247/exploring-variation-in-ambulance-calls-and-conveyance-rates-for-adults-with-diabetes-mellitus-who-contact-the-northern-ireland-ambulance-service-a-retrospective-database-analysis
#39
JOURNAL ARTICLE
Aoife Watson, Benjamin Clubbs Coldron, Benjamin Wingfield, Nigel Ruddell, Chris Clarke, Siobhan Masterson, Donna McConnell, Vivien Coates
BACKGROUND: People with diabetes frequently contact the ambulance service about acute problems. Overall, treating diabetes and its associated complications costs the NHS 10% of the annual budget. Reducing unnecessary hospital admissions and ambulance attendances is a high priority policy for the NHS across the UK. This study aimed to determine the characteristics of emergency calls for people with diabetes who contact the ambulance service and are subsequently conveyed to hospital by the Northern Ireland Ambulance Service (NIAS)...
December 1, 2021: British paramedic journal
https://read.qxmd.com/read/34935743/911-calls-for-emergency-medical-services-in-heart-failure-a-descriptive-qualitative-study
#40
JOURNAL ARTICLE
Miyeon Jung, Laura M Hays, Peter S Pang, Robin P Newhouse, Thomas P Arkins, Daniel O'Donnell, Ryan Cook, Irmina Gradus-Pizlo, Ellen McAdams, Susan J Pressler
BACKGROUND: Heart failure (HF) is a common condition leading to activation of emergency medical services (EMS). OBJECTIVE: The aim of this study was to describe reasons given by persons with HF, family members, or other caregivers for requesting EMS activation during 911 calls. METHODS: In this descriptive qualitative study, a content analysis was performed on transcribed audio files of 383 EMS requests involving 383 persons with HF in the community...
December 21, 2021: Journal of Cardiovascular Nursing
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