General Clinicians Research Articles

GoFCards: an integrated database and analytic platform for gain of function variants in humans.

Gain-of-function (GOF) variants, which introduce new or amplify protein functions, are essential for understanding disease mechanisms. Despite advances in genomics and functional research, identifying and analyzing pathogenic GOF variants remains challenging owing to fragmented data and database limitations, underscoring the difficulty in accessing critical genetic information. To address this challenge, we manually reviewed the literature, pinpointing 3089 single-nucleotide variants and 72 insertions and deletions in 579 genes associated with 1299 diseases from 2069 studies, and integrated these with the 3.5 million predicted GOF variants. Our approach is complemented by a proprietary scoring system that prioritizes GOF variants on the basis of the evidence supporting their GOF effects and provides predictive scores for variants that lack existing documentation. We then developed a database named GoFCards for general geneticists and clinicians to easily obtain GOF variants in humans (http://www.genemed.tech/gofcards). This database also contains data from>150 sources and offers comprehensive variant-level and gene-level annotations, with the aim of providing users with convenient access to detailed and relevant genetic information. Furthermore, GoFCards empowers users with limited bioinformatic skills to analyze and annotate genetic data, and prioritize GOF variants. GoFCards offers an efficient platform for interpreting GOF variants and thereby advancing genetic research.

A Paradigm for Shared Decision-Making in Pediatric Anesthesia Practice for Children with Autism for the Generalist Clinician.

A Paradigm for Shared Decision-Making in Pediatric Anesthesia Practice for Children with Autism for the Generalist Clinician.

End-of-Life Decision Making in Patients with Advanced Dementia: The Perspectives of the Korean General Population and Clinicians.

Korea's transition into a super-aged society brings to the forefront the escalating dementia prevalence and the consequent rise in mortality, highlighting the need for effective end-of-life (EOL) care strategies. Despite legislative advancements, gaps remain in addressing the medical and ethical challenges of EOL care for patients with advanced dementia, particularly in evaluating treatment options like nasogastric tube (NGT) use and mechanical ventilation (MV). This study investigates the attitudes of the general population (GP) and clinicians in Korea towards EOL treatment decisions. A cross-sectional, web-based survey was conducted among 500 members of the GP and 200 clinicians from a university hospital. Case vignettes were used to assess attitudes towards EOL treatment decisions, specifically focusing on NGT and MV use, and to explore the influencing factors. There was a notable difference in favorable attitudes toward NGT withdrawal between the GP (62.2%) and clinicians (39.0%). Otherwise, both groups showed higher acceptance of MV withholding (82.2% [GPs] and 82.5% [clinicians]) when informed of the patient's verbal intention regarding life-sustaining treatment (LST), and attitudes were more positive with written advance directives. Also, it was decreased when patient intentions were unclear. The results suggested the need to consider NGT as a medical intervention requiring a risk-benefit analysis. Although LST decision-making in patients with advanced dementia is still limited in Korea, this study showed the shared recognition among the GP and clinicians of the importance of EOL treatment decisions that consider patient wishes and quality of life for patients with advanced dementia.

Streamlining documentation in patient electronic medical records: An example of chlamydia consultation shortcuts.

Australian general practitioners encounter a vast array of health issues in their clinical practice. High-quality clinical record keeping is crucial to support continuity of care for patients and decision making for clinicians. Many clinical software programs used in general practice contain shortcut features that allow insertion of pre-stored, editable text into progress notes. These can be used to support documentation of specific health issues. Drawing on our experience within a research project seeking to strengthen chlamydia management in general practice, this article describes the co-design, implementation and use of documentation shortcuts for chlamydia management. Shortcuts are useful as a memory prompt and timesaver for general practice clinicians. It is important that they do not replace clinical acumen and judgement. General practices using our chlamydia management shortcuts found them easy to set up, that they acted as a prompt for best practice chlamydia management and that they integrated well with the general practice workflow.

Working knowledge, uncertainty and ontological politics: An ethnography of UK long covid clinics.

Long covid (persistent COVID-19) is a new disease with contested aetiology and variable prognosis. We report a 2-year ethnography of UK long covid clinics. Using a preformative lens, we show that multidisciplinary teams (MDTs) built working knowledge based on shared practices, mutual trust, distributed cognition (e.g. emails, record entries), relational knowledge of what was at stake for the patient, and harnessing uncertainty to open new discursive spaces. Most long covid MDTs performed the working knowledge of 'rehabilitation', a linked set of practices oriented to ensuring that the patient understood and strove to 'correct' maladaptive physiological responses (e.g. through breathing exercises) and pursued recovery goals, supported by physiotherapists, psychologists and generalist clinicians. Some MDTs with a higher proportion of doctors (e.g. cardiologists, neurologists, immunologists) enacted the working knowledge of 'microscopic damage', seeking to elucidate and rectify long covid's underlying molecular and cellular pathology. They justified non-standard investigations and medication in selected patients by co-constructing an evidentiary narrative based on biological mechanisms. Working knowledge was ontologically concordant within MDTs but sometimes discordant between MDTs. Overt ontological conflict occurred mostly when patients attending 'rehabilitation' clinics invoked the working knowledge of microscopic damage that had been generated and circulated in online support communities.

Management of acute severe ulcerative colitis-an update for generalist and specialist clinicians.

Acute severe ulcerative colitis (ASUC) is a potentially life-threatening medical emergency that occurs in up to 25% of patients with ulcerative colitis. Although intravenous corticosteroids remain the cornerstone of therapy, 30-40% of patients will not respond and need timely consideration of rescue therapy with (currently) either infliximab or ciclosporin or indeed colectomy, underscoring the importance of multidisciplinary care to ensure favourable outcomes for patients. We discuss the current evidence and present an approach to the management of ASUC for general and specialist clinicians caring for patients with ASUC. The information in this review is derived from data published in peer- reviewed academic journals and registered clinical trials. Management of acute severe colitis requires a multidisciplinary approach with early initiation with steroids and timely escalation of treatment to either medical rescue therapy or surgery. Balancing the risks of delayed surgery vs. optimizing medical therapy, including accelerated dosing schedules for biologics, remains ambiguous. The position on newer molecules like Janus Kinase inhibitors, such as tofacitinib, is a growing area with early real-world data showing promise for steroid refractory ASUC. Developing predictive biomarkers and clinical risk scores for personalized rescue therapy selection is an evolving area of research.

Sources of Sound Exposure in Pediatric Critical Care.

Sound levels in the pediatric intensive care unit (PICU) are often above recommended levels, but few researchers have identified the sound sources contributing to high levels. To identify sources of PICU sound exposure. This was a secondary analysis of continuous bedside video and dosimeter data (n = 220.7 hours). A reliable coding scheme developed to identify sound sources in the adult ICU was modified for pediatrics. Proportions of sound sources were compared between times of high (≥45 dB) and low (<45 dB) sound, during day (7 AM to 6:59 PM) and night (7 PM to 6:59 AM) shifts, and during sound peaks (≥70 dB). Overall, family vocalizations (38% of observation time, n = 83.9 hours), clinician vocalizations (32%, n = 70.6 hours), and child nonverbal vocalizations (29.4%, n = 64.9 hours) were the main human sound sources. Media sounds (57.7%, n = 127.3 hours), general activity (40.7%, n = 89.8 hours), and medical equipment (31.3%, n = 69.1 hours) were the main environmental sound sources. Media sounds occurred in more than half of video hours. Child nonverbal (71.6%, n = 10.2 hours) and family vocalizations (63.2%, n = 9 hours) were highly prevalent during sound peaks. General activity (32.1%, n = 33.2 hours), clinician vocalizations (22.5%, n = 23.3 hours), and medical equipment sounds (20.6, n = 21.3 hours) were prevalent during night shifts. Clinicians should partner with families to limit nighttime PICU noise pollution. Large-scale studies using this reliable coding scheme are needed to understand the PICU sound environment.

Prescription and Dispensation of QT-Prolonging Medications in Individuals Receiving Hemodialysis

Individuals with dialysis-dependent kidney failure have numerous risk factors for medication-related adverse events, including receipt of care by multiple clinicians and initiation of some QT-prolonging medications with known risk of torsades de pointes (TdP), which is associated with higher risk of sudden cardiac death. Little is known about the prescription and dispensation patterns of QT-prolonging medications among people receiving dialysis, hindering efforts to reduce drug-related harm from these and other medications in this high-risk population. To examine prescription and dispensation patterns of QT-prolonging medications with known TdP risk and selected interacting medications prescribed to individuals receiving hemodialysis. This cross-sectional study included patients 60 years or older who were enrolled in Medicare Parts A, B, and D receiving in-center hemodialysis from January 1 to December 31, 2019. Analyses were conducted from October 20, 2022, to June 16, 2023. New-user prescriptions for the 7 most frequently filled QT-prolonging medications characterized by the timing of the new prescription relative to acute care encounters, the type of prescribing clinician and pharmacy that dispensed the medication, and concomitant use of selected medications known to interact with the 7 most frequently filled QT-prolonging medications with known TdP risk. The main outcomes were the frequencies of the most commonly filled and new-use episodes of QT-prolonging medications; the timing of medication fills relative to acute care events; prescribers and dispensing pharmacy characteristics for new use of medications; and the frequency and types of new-use episodes with concurrent use of potentially interacting medications. Of 20 761 individuals receiving hemodialysis in 2019 (mean [SD] age, 74 [7] years; 51.1% male), 10 992 (52.9%) filled a study drug prescription. Approximately 80% (from 78.6% for odansetron to 93.9% for escitalopram) of study drug new-use prescriptions occurred outside of an acute care event. Between 36.8% and 61.0% of individual prescriptions originated from general medicine clinicians. Between 16.4% and 26.2% of these prescriptions occurred with the use of another QT-prolonging medication. Most potentially interacting drugs were prescribed by different clinicians (46.3%-65.5%). In this cross-sectional study, QT-prolonging medications for individuals with dialysis-dependent kidney failure were commonly prescribed by nonnephrology clinicians and from nonacute settings. Prescriptions for potentially interacting medications often originated from different prescribers. Strategies aimed at minimizing high-risk medication-prescribing practices in the population undergoing dialysis are needed.

ATS core curriculum 2023. Pediatric pulmonary medicine: Respiratory disorders in infants.

The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a summary of the Pediatric Pulmonary Medicine Core Curriculum presented at the 2023 American Thoracic Society International Conference. The respiratory disorders of infancy discussed in this year's review include: the care of the patient with bronchopulmonary dysplasia in the neonatal intensive care unit, clinical phenotypes and comorbidities; diffuse lung disease; pulmonary hypertension; central and obstructive sleep apnea. The care of infants with respiratory disorders often poses significant challenges to the general pediatric pulmonologist, sleep clinician, and neonatologist. This review aims to highlight the most clinically relevant aspects of the evaluation, management, and outcomes of infants with these key respiratory disorders, while emphasizing the importance of multidisciplinary care. Furthermore, this document summarizes essential aspects of genetic testing, novel imaging and treatment modalities, and includes multiple resources for clinical practice.

Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with potential for severe complications including sudden cardiac death. Early diagnosis allows appropriate risk stratification and prompt intervention to minimise the potential for adverse outcomes. The implications of poorly coordinated screening are significant, either missing relatives at high-risk or burdening low-risk individuals with a diagnosis associated with reduced life expectancy. We aim to guide clinicians through the diagnostic pathway through to novel treatment options. Several conditions mimic the condition, and we discuss the phenocopies and how to differentiate from HCM. We summarise the latest developments informing clinical decision making in the modern era of myosin inhibitors and future gene editing therapies. Early identification will enable prompt referral to specialist centres. A diagnostic flowchart is included, to guide the general cardiology and heart failure clinician in important decision making regarding the care of the HCM patient and importantly their relatives at risk. We have highlighted the importance of screening because genotype-positive/phenotype-negative patients are likely to have the most to gain from novel therapies.

Development of a palliative paramedicine framework to standardise best practice: A Delphi study.

Growing global demand for palliative care services has prompted generalist clinicians to provide adjunct support to specialist teams. Paramedics are uniquely placed to respond to these patients in the community. However, embedding palliative care principles into their core business will require multifactorial interventions at structural, healthcare service and individual clinician and consumer levels. To develop a palliative paramedicine framework suitable for national implementation, to standardise best practice in Australia. Delphi study utilising questionnaire completion; each round informed the need for, and content of, the next round. Free text comments were also sought in Round 1. Two rounds of Delphi were undertaken. Sixty-eight participants took part in Round 1, representing six countries, and 66 in Round 2. Participants included paramedics, palliative care doctors and nurses, general practitioners, researchers and carers with lived experience and expertise in palliative paramedicine. Seventeen of the original 24 components gained consensus; 6 components were modified; and 9 new components arose from Round 1. All modified and new components gained consensus in Round 2. Only one original component did not gain consensus across both rounds and was excluded from the final 32-component framework. This study has developed a comprehensive national framework addressing the macro-, meso- and micro-level interventions required to standardise palliative paramedicine across Australia. Future research ought to engage a multidisciplinary team to create an implementation strategy, addressing any perceived barriers, facilitators and challenges for applying the framework into policy and practice.

Applying human-centered design to the construction of a cirrhosis management clinical decision support system.

Electronic health record (EHR)-based clinical decision support is a scalable way to help standardize clinical care. Clinical decision support systems have not been extensively investigated in cirrhosis management. Human-centered design (HCD) is an approach that engages with potential users in intervention development. In this study, we applied HCD to design the features and interface for a clinical decision support system for cirrhosis management, called CirrhosisRx. We conducted technical feasibility assessments to construct a visual blueprint that outlines the basic features of the interface. We then convened collaborative-design workshops with generalist and specialist clinicians. We elicited current workflows for cirrhosis management, assessed gaps in existing EHR systems, evaluated potential features, and refined the design prototype for CirrhosisRx. At the conclusion of each workshop, we analyzed recordings and transcripts. Workshop feedback showed that the aggregation of relevant clinical data into 6 cirrhosis decompensation domains (defined as common inpatient clinical scenarios) was the most important feature. Automatic inference of clinical events from EHR data, such as gastrointestinal bleeding from hemoglobin changes, was not accepted due to accuracy concerns. Visualizations for risk stratification scores were deemed not necessary. Lastly, the HCD co-design workshops allowed us to identify the target user population (generalists). This is one of the first applications of HCD to design the features and interface for an electronic intervention for cirrhosis management. The HCD process altered features, modified the design interface, and likely improved CirrhosisRx's overall usability. The finalized design for CirrhosisRx proceeded to development and production and will be tested for effectiveness in a pragmatic randomized controlled trial. This work provides a model for the creation of other EHR-based interventions in hepatology care.

A method for teaching depth of corneal lesions using a portable slit lamp (biomicroscope).

A novel, simple, and inexpensive model for teaching depth of lesions within the cornea using slit lamp biomicroscopy to veterinary students, ophthalmology residents, and general clinicians with access to a slit lamp biomicroscope is described. Using common laboratory items, this method can be created in any clinic and can be used to teach and quiz students through independent study with objective self-testing achieved.

Diagnosis as a new beginning not an end: A participatory photovoice study on navigating an autism diagnosis in adulthood.

Lots of people seek an autism diagnosis as an adult, and they often say that being diagnosed can be positively life-changing, but the experience of getting a diagnosis can be difficult. We often do not hear the views of people currently looking for a diagnosis, or talk to them about how diagnosis relates to their identity. In our study, we looked at experiences of people currently seeking an autism diagnosis in the UK. We used participatory methods, where six people seeking diagnosis were included as collaborators in the research. They took part in four different sessions, where they helped to shape the research, took part in interviews about their experiences and helped to analyse the patterns in all the interviews. We also used something called photovoice during the interviews, where they could use photos to show how they felt about navigating a diagnosis. We identified four common themes: (1) everyone had experienced some form of crisis before seeking diagnosis; (2) when they realised they were autistic, they felt seen; (3) the diagnostic process and criteria were not working, and they felt judged by clinicians and (4) there was limited support available after diagnosis. In another session, we identified actions that need to be taken which have implications for policy and practice, including improving the diagnostic process and criteria with autistic people, autistic people being listened to more by people like general practitioners and clinicians and diagnosis services needing to be more flexible and appreciate different aspects of someone's identity and neurodivergence.

Study: Educating prescribers may help buprenorphine uptake

More than a year ago the X‐waiver for buprenorphine prescribing was eliminated, but that did not increase prescribing (see https://onlinelibrary.wiley.com/doi/10.1002/adaw.33832). States where the preauthorization requirement was eliminated did not see increases in buprenorphine prescribing (see https://onlinelibrary.wiley.com/doi/10.1002/adaw.33956). So what is the problem? A study published last month, “Prescriptions for Buprenorphine in Michigan Following an Education Intervention,” compared counties that had education about buprenorphine for prescribers with those that didn't and found that educating general (not addiction) clinicians might be one solution. (Addiction medicine specialists already know how to prescribe buprenorphine.)

Beyond Legal Boundaries: Public and Clinician Perspectives on Treatment Withdrawal in Infants With Poor Neurological Prognosis.

Despite medical advancements in neonatal survival rates, many children have poor neurological outcomes. Because the law in Korea restricts the withdrawal of life-sustaining treatment to only cases of imminent death, treatment discontinuation may not be an option, even in patients with poor neurological prognosis. This study investigated the opinions of the general population and clinicians regarding life-sustaining treatment withdrawal in such cases using hypothetical scenarios. We conducted a cross-sectional study on the general population and clinicians using a web-based questionnaire. The sample of the general population from an online panel comprised 500 individuals aged 20-69 years selected by quota sampling. The clinician sample comprised 200 clinicians from a tertiary university hospital. We created hypothetical vignettes and questionnaire items to assess attitudes regarding mechanical ventilation withdrawal for an infant at risk of poor neurological prognosis due to birth asphyxia at 2 months and 3 years after the incidence. Overall, 73% of the general population and 74% of clinicians had positive attitudes toward mechanical ventilator withdrawal at 2 months after birth asphyxia. The proportion of positive attitudes toward mechanical ventilator withdrawal was increased in the general population (84%, P < 0.001) and clinicians (80.5%, P = 0.02) at 3 years after birth asphyxia. Religion, spirituality, the presence of a person with a disability in the household, and household income were associated with the attitudes of the general population. In the multivariable logistic regression analysis of the general population, respondents living with a person with a disability or having a disability were more likely to find the withdrawal of the ventilator at 2 months and 3 years after birth asphyxia not permissible. Regarding religion, respondents who identified as Christians were more likely to find the ventilator withdrawal at 2 months after birth asphyxia unacceptable. The general population and clinicians shared the perspective that the decision to withdraw life-sustaining treatment in infants with a poor neurological prognosis should be considered before the end of life. A societal discussion about making decisions centered around the best interest of pediatric patients is warranted.

Providing clarity: communicating the benefits of palliative care beyond end-of-life support.

Palliative care affords numerous benefits, including improvements in symptom management, mental health, and quality of life, financial savings, and decreased mortality. Yet palliative care is poorly understood and often erroneously viewed as end-of-life care and hospice. Barriers for better education of the public about palliative care and its benefits include shortage of healthcare providers specializing in palliative care and generalist clinicians' lack of knowledge and confidence to discuss this topic and time constraints in busy clinical settings. Explore and compare the knowledge, values, and practices of community-dwelling adults 19 years and older from Nebraska about serious illness and end-of-life healthcare options. Secondary analysis of cross-sectional data collected in 2022 of 635 adults. We examined the fifth wave (2022) of a multiyear survey focusing on exploring Nebraskans' understanding of and preferences related to end-of-life care planning. Descriptive statistics and chi-square tests to compare results between groups. Univariable and multivariable logistic regression analyses examine associations of variables as to knowledge of hospice and palliative care. While 50% of respondents had heard a little or a lot about palliative care, 64% either did not know or were not sure of the difference between palliative care and hospice. Those who reported being in poor health were not more likely to know the difference between palliative care and hospice compared to those reporting being in fair, good, or excellent health. This study offers insight into the knowledge and attitudes about palliative care among community-dwelling adults, 19 years and older living in Nebraska. More effort is needed to communicate what palliative care is, who can receive help from it, and why it is not only for people at end of life. Advance care planning discussions can be useful in offering clarity.

Public and Clinician Perspectives on Ventilator Withdrawal in Vegetative State Following Severe Acute Brain Injury: A Vignette Survey.

The vegetative state (VS) after severe acute brain injury (SABI) is associated with significant prognostic uncertainty and poor long-term functional outcomes. However, it is generally distinguished from imminent death and is exempt from the Life-Sustaining Treatment (LST) Decisions Act in Korea. Here, we aimed to examine the perspectives of the general population (GP) and clinicians regarding decisions on mechanical ventilator withdrawal in patients in a VS after SABI. A cross-sectional survey was undertaken, utilizing a self-reported online questionnaire based on a case vignette. Nationally selected by quota sampling, the GP comprised 500 individuals aged 20 to 69 years. There were 200 doctors from a tertiary university hospital in the clinician sample. Participants were asked what they thought about mechanical ventilator withdrawal in patients in VS 2 months and 3 years after SABI. Two months after SABI in the case, 79% of the GP and 83.5% of clinicians had positive attitudes toward mechanical ventilator withdrawal. In the GP, attitudes were associated with spirituality, household income, religion, the number of household members. On the other hand, clinicians' attitudes were related to their experience of completing advance directives (AD) and making decisions about LST. In this case, 3 years after SABI, 92% of the GP and 94% of clinicians were more accepting of ventilator withdrawal compared to previous responses, based on the assumption that the patient had written AD. However, it appeared that the proportion of positive responses to ventilator withdrawal decreased when the patients had only verbal expressions (82% of the GP; 75.5% of clinicians) or had not previously expressed an opinion regarding LST (58% of the GP; 39.5% of clinicians). More than three quarters of both the GP and clinicians had positive opinions regarding ventilator withdrawal in patients in a VS after SABI, which was reinforced with time and the presence of AD. Legislative adjustments are needed to ensure that previous wishes for those patients are more respected and reflected in treatment decisions.

BUILDING FOUNDATIONAL COMPETENCIES IN OLDER ADULT MENTAL HEALTH: VIRTUAL AND IN-PERSON TRAINING

Abstract Designed to develop foundational knowledge competencies for generalist clinicians, this program was created by a team of geropsychologists, geriatric social workers, geriatric psychiatrists, and neuropsychologists, who reviewed competencies of multiple mental health disciplines, and identified 14 key areas of knowledge for clinicians. Content was created by Rush faculty, externally peer-reviewed, and developed into two versions. The 14-hour online version includes knowledge checks and national expert videos to provide multiple perspectives and voices of experience. Of the first 176 learners in the online version, 96.8% rated the overall program as excellent, with strong agreement (97.4 – 98.3%) that the training was applicable to practice, expectations were met, and learners had intention to apply the knowledge. All learners are required to achieve a minimum of 75% on knowledge post-test to complete each module. The three-day in-person program provided 25 diverse clinicians representing every HHS region with didactic content, interactive exercises, discussion, and a simulated patient experience to practice skills with live expert feedback. Participants demonstrated 14% improvement in knowledge (p&amp;lt;.01). Didactic lectures were rated 100% extremely or very helpful; 82% rated group learning exercises extremely helpful; 100% rated the simulation lab as extremely or very helpful. Balance between activities and match with learning style were rated good to very good. All participants rated the likelihood of recommending the program to a colleague as extremely or very likely. Evaluation of skill implementation is ongoing. Implications for expanding generalist competencies in older adult mental health will be discussed.

Cardiovascular complications of sickle cell disease: A primer for the general clinician

Sickle cell disease (SCD) is the most common hereditary hemoglobinopathy and mainly affects individuals of African ancestry. As survival has improved especially in high-income countries, increased rates of cardiopulmonary complications such as pulmonary hypertension, heart failure with diastolic dysfunction, and sudden death are encountered in clinical practice. These complications are the leading causes of morbidity and mortality as these individuals survive into adulthood. Understanding the need for, early identification, timely intervention, and implementation of preventive strategies are critical in reversing this trend and improving quality of life and survival rates. This manuscript aims to provide a comprehensive review of the pathogenesis of cardiovascular complications associated with sickle cell disease and equip the clinician with tools to facilitate the early diagnosis and management of patients with SCD as increasing numbers survive into adulthood.