Taking the bait: Strychnine poisoning.

A 48-year-old male intentionally ingested "gopher killer" containing strychnine as a, suicide attempt. He rapidly developed generalized muscle spasms with opisthotonos followed by cardiovascular collapse. He was resuscitated, treated with 24 h of, neuromuscular paralysis, and was discharged on hospital day 10 without sequelae. A blood strychnine concentration obtained five hours post ingestion was 2.2 mg/L. Strychnine poisoning is exceedingly rare in the modern United States and this report contains a video recording of the classic exam findings.

Ultrasound-Guided vs. Landmark Method for Subclavian Vein Catheterization in an Academic Emergency Department.

BACKGROUND: Ultrasound guidance has been shown to decrease complication rates and improve success for internal jugular and femoral vein catheterization in the emergency department (ED). However, the current data on the efficacy and safety of ultrasound-guided subclavian vein catheterization has failed to provide support for similar conclusions. OBJECTIVE: To determine if ultrasound-guided subclavian vein catheterization is safer and more efficacious than the traditional landmark method in an ED setting. METHODS: A prospective randomized trial was conducted from April 2004 through June 2009 in an urban tertiary care academic ED with an annual census of >50,000 patients. Four primary data endpoints were calculated: 1) overall success for both resident and attending physicians; 2) number of attempts by each group of providers; 3) complication rate with each method; and 4) time to which the subclavian line was obtained. RESULTS: Eighty-five patients were enrolled in the study. The ultrasound method was more successful in obtaining subclavian catheter placement when compared with the landmark method. When comparing successful cannulation attempts in both groups, the ultrasound group showed a statistically significant longer time to success when compared with the landmark group. There was no difference in the success or complication rates between residents and attending physicians. There was no significant difference in complications rates between ultrasound-guided and landmark methods. CONCLUSION: Ultrasound-guided subclavian vein catheterization was found to be associated with a higher overall success rate compared with the landmark method with no significant difference with respect to complication rate in an ED setting. © 2022 Elsevier Inc.

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

BACKGROUND: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients. METHODS: We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. We evaluated this panel in 127 consecutive patients ranging in age from newborns to 81 years who had samples sent in for genetic testing. RESULTS: The performance of the sequencing pipeline for single-nucleotide variants was validated using CEPH (Centre de'Etude du Polymorphism) controls and for indels using Genome-in-a-Bottle. To test the reliability of the copy number variant (CNV) analysis, positive samples were re-sequenced and analyzed. For patient samples, a multidisciplinary review board interpreted genetic results in the context of clinical data. A genetic diagnosis was made in 54 (43%) patients and ranged from 54% for CAKUT, 53% for ciliopathies/tubulointerstitial diseases, 45% for transport disorders to 33% for glomerulopathies. Pathogenic and likely pathogenic variants included 46% missense, 11% nonsense, 6% splice site variants, 23% insertion-deletions and 14% CNVs. In 13 cases, the genetic result changed the clinical diagnosis. CONCLUSION: Broad genetic testing should be considered in the evaluation of renal patients as it complements other tests and provides insight into the underlying disease and its management.

Real-time Point-of-care Ultrasound for the Diagnosis and Treatment of Testicular Torsion.

Background: Testicular torsion is a surgical emergency that needs prompt diagnosis and treatment. Point-of-Care ultrasound (POCUS) can not only establish the diagnosis but also guide the Emergency Physician in evaluating the response to manual detorsion. Case Report: We describe the case of a 13-year-old male who presented with acute scrotal pain. We demonstrate how bedside ultrasound was used to make the diagnosis of testicular torsion, guide the technique for manual detorsion, and confirm adequate return of blood flow. Our case illustrates the ease with which POCUS can be used in real time to diagnose and treat organ-threatening pathology, but more importantly, it shows how real-time POCUS was used to detorse a testicle that was refractory to the standard detorsion technique. Conclusion: The acute scrotum is a time-sensitive presentation and if testicular torsion is present, the diagnosis should be made as soon as possible. Many Emergency Departments do not have 24-hour coverage of ultrasound technicians, which would delay the diagnosis and treatment. Moreover, when manual detorsion is attempted, it often does not work because the testicle may need more than the standard 180 degree medial to lateral rotation. POCUS provides real-time analysis of return of blood flow and can thus guide further rotation, or opposite direction rotation, as needed.

A Case of Covid-19 Diagnosed at Home With Portable Ultrasound and Confirmed With Home Serology Test.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has pushed us to find better ways to accurately diagnose what can be an elusory disease, preferably in a way that limits exposure to others. The potential for home diagnosis and monitoring could reduce infectious risk for other patients and health care providers, limit use of finite hospital resources, and enable better social distancing and isolation practices. CASE REPORT: We report a case of an otherwise healthy emergency physician diagnosed with COVID-19 at home using portable ultrasound, pulse oximetry, and antibody testing. Her clinical picture and typical lung findings of COVID-19 on ultrasound, combined with a normal echocardiogram and negative deep vein thrombosis study, helped inform her diagnosis. She then monitored her clinical course using pulse oximetry, was able to self-isolate for 4 weeks, and had an uneventful recovery. Her diagnosis was confirmed with a positive IgG antibody test after 3 weeks. CONCLUSIONS: Novel times call for novel solutions and our case demonstrates one possible path for home diagnosis and monitoring of COVID-19. The tools used, namely ultrasound and pulse oximetry, should be familiar to most emergency physicians. Ultrasound in particular was helpful in eliminating other potential diagnoses, such as pulmonary embolus.

Training hospital inpatient nursing to know (THINK) delirium: A nursing educational program.

BACKGROUND/OBJECTIVES: Recognition and documentation of delirium is a challenge in the hospital. Education programs lack standardized screening tools. The presence of dementia or depression contribute to poor recognition of delirium. Many front-line healthcare workers attribute delirium to dementia, often misidentifying or delaying a correct diagnosis and in turn, treatment. Unrecognized and untreated delirium is costly. Non-pharmacologic interventions improve patient outcomes and decrease costs. Without delirium education, nurses are vulnerable to injury and low job satisfaction when caring for delirious patients. We describe an education program improving recognition and attitudes towards patients experiencing delirium. DESIGN: An education program about screening, documenting, and treating delirium. SETTING: A large Veterans Health System Hospital. PARTICIPANTS: Healthcare professionals(n = 389) participated in the education program. 355 Nurses and patient-care assistants took the pre and post-test, and 43 returned the post program follow-up survey. A delirium education program with three steps; 1) self-directed online module; 2) dementia simulation experience; and 3) a multi-station delirium skills fair. Pre and post-tests were conducted after step 2, as well as a four-month follow-up survey. MEASUREMENTS: Changes in attitude toward patients with cognitive impairment and their abilities. Self-assessment of attitudes toward patients with delirium. RESULTS: Statistically significant differences in pre and post-testing suggested increased understanding of the experience and abilities of people experiencing cognitive impairment . The four-month follow-up survey showed a continued understanding of the importance of recognizing, documenting, and treating delirium. CONCLUSION: Nursing Education about delirium that includes instruction on a standardized screening tool, documentation, and non-pharmacologic interventions improved knowledge and recognition of delirium and may have changed attitudes surrounding delirium in the hospital.

Facing forward: The development of a cancer nursing knowledge and practice framework.

The Canadian Association of Nurses in Oncology (CANO/ACIO) is the national organization supporting nurses to develop and promote excellence in oncology nursing practice, education, research and leadership. To support their mission, CANO/ACIO has developed Standards of Care for cancer patients and Standards and Competencies for Oncology Nurses caring for these individuals (CANO, 2001, 2006). Since the creation of the first standards for specialized oncology nursing in 2006, cancer care has changed considerably with increased cancer occurrence and prevalence, new therapies including oral agents, and cancer care transitioning from specialized treatment centres (Canadian Cancer Society, 2019). Given the changing landscape for nursing practice, CANO/ACIO embarked on a process to update the current standards with the aim of including the role of nurses caring for cancer patients and families in all settings. Through this process experts identified the need for a national nursing framework to assist with the integration of current standards and describe nursing contributions to high quality cancer care. This article describes the process that CANO/ACIO utilized to establish the CANO Nursing Knowledge and Practice Framework and Toolkit for Cancer Care.

Innovation pratique : infirmières en pratique avancée et soins du cancer.

OBJECTIFS: La présente étude avait pour but de recueillir, en consultation avec les infirmières en pratique avancée (IPA), des données probantes sur les pratiques émergentes afin de combler les lacunes à cet égard dans les lignes directrices sur le recours judicieux aux infirmières en pratique avancée dans la prestation des services aux adultes atteints de cancer en Ontario (Effective Use of Advanced Practice Nurses in the Delivery of Adult Cancer Services in Ontario), ainsi que de proposer un ensemble de recommandations, formulées par un groupe d'experts, pour créer un programme de recherche qui permettra de recueillir et de publier des données probantes de niveau 1 et de niveau 2. MÉTHODOLOGIE: Une enquête Delphi modifiée à trois tours faisant appel à la méthodologie mise au point par RAND et UCLA (aussi appelée ≪ Appropriateness Methodology ≫) a été utilisée pour solliciter l'avis des spécialistes sur le recours aux IPA pour le soin des adultes atteints de cancer en Ontario. RÉSULTATS: Trente-quatre (34) cas de recours aux IPA ont été recensés. L'enquête Delphi modifiée a permis de définir 30 énoncés de rôle à partir desquels ont été formulées neuf (9) recommandations supplémentaires sur l'intervention des IPA dans la prestation des soins aux adultes atteints de cancer. CONCLUSION: Les recommandations de la présente étude orienteront les recherches à venir pour combler les lacunes au chapitre des données probantes quant au rôle des IPA dans la prestation des soins du cancer au Canada.

Practical innovation: Advanced practice nurses in cancer care.

OBJECTIVES: The objectives of this study were to gather emerging practice evidence, through consultation with Advance Practice Nurses (APN), to fill the evidence gaps in the published guidelines, Effective Use of Advanced Practice Nurses in the Delivery of Adult Cancer Services in Ontario, and to provide a set of expert panel recommendations to build a research agenda to promote the collection and publication of Level 1 and 2 evidence. METHOD: A three-step RAND/UCLA Appropriateness Methodology (RAM) modified Delphi process was used to solicit expert opinion on the use of APNs in adult cancer care in Ontario. RESULTS: Thirty-four (34) case examples of APN use were gathered. The modified Delphi process concluded with the endorsement of 30 APN role statements that were used to develop nine (9) additional recommendations regarding the use of APNs in the delivery of adult cancer care. CONCLUSION: The recommendations from this study provide direction for future research to close the current evidence gap regarding the role of APNs in cancer care delivery in Canada.

Occupational Hazard: Disruptive Behavior in Patients.

Accurate reporting of disruptive behavior enables the development of strategies that provide for the safe delivery of health care to patients.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Xia-Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss-of-function AHDC1 mutations. XGS is characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. Here we report the clinical phenotype of five of six individuals with XGS identified prospectively at the Children's Hospital of Philadelphia, a tertiary children's hospital in the USA. Although all five patients demonstrated common clinical features characterized by developmental delay and characteristic facial features, each of our patients showed unique clinical manifestations. Patient one had craniosynostosis; patient two had sensorineural hearing loss and bicuspid aortic valve; patient three had cutis aplasia; patient four had soft, loose skin; and patient five had a lipoma. Differential diagnoses considered for each patient were quite broad, and included craniosynostosis syndromes, connective tissue disorders, and mitochondrial disorders. Exome sequencing identified a heterozygous, de novo AHDC1 loss-of-function mutation in four of five patients; the remaining patient has a 357kb interstitial deletion of 1p36.11p35.3 including AHDC1. Although it remains unknown whether these unique clinical manifestations are rare symptoms of XGS, our findings indicate that the diagnosis of XGS should be considered even in individuals with additional non-neurological symptoms, as the clinical spectrum of XGS may involve such non-neurological manifestations. Adding to the growing literature on XGS, continued cohort studies are warranted in order to both characterize the clinical spectrum of XGS as well as determine standard of care for patients with this diagnosis.

DNM1 encephalopathy: A new disease of vesicle fission.

OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. RESULTS: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. CONCLUSIONS: The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.

Collaborative Counseling Considerations for Pharmacogenomic Tests.

Increased use of pharmacogenomic (PGx) testing in the clinical setting has revealed a number of challenges to providing this service. PGx is an important component of precision medicine that brings together the fields of genetics and clinical pharmacology. A model that incorporates a multidisciplinary approach to implementation and information delivery may be the most beneficial to patients and providers. In this review, translational considerations in the provision of PGx testing and counseling services are described. Specifically, we report on the selection of PGx tests, the provision of patient education and counseling, and examples of PGx service delivery models that incorporate counseling by pharmacists and genetic counselors. Examples of ancillary risks associated with PGx testing, testing of children, and familial implications of testing are reviewed. Through multispecialty partnerships, including genetic counselors and pharmacists, implementation obstacles to PGx testing can be overcome to provide quality precision medicine to patients.

Incident Reporting by Health-Care Workers in Noninstitutional Care Settings.

Patient-perpetrated violence and aggression toward health-care workers, specifically in noninstitutional health-care settings, cause concerns for both health-care providers and the clients whom they serve. Consequentially, this presents a public affairs problem for the entire health-care system, which the current research has failed to adequately address. While the literature overwhelmingly supports the assertion that accurate incident reporting is critical to fully understanding patient violence and aggression toward health-care providers, there is limited research examining provider decision making related to reporting incidents of patient violence and aggression targeted toward the provider. There is an even greater paucity of research specifically examining this issue in noninstitutional health-care settings. It is therefore the objective of this review to examine this phenomenon across disciplines and service settings in order to offer a comprehensive review of incident reporting and to examine rationales for providers reporting or failing to report instances of patient violence and aggression toward health-care providers.

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epileptic encephalopathies. Incorporation of WES in these algorithms is leading to the discovery of new genetic diagnoses of early onset epileptic encephalopathies (EOEEs) at a rapid rate; however, WES is not yet a universally utilized diagnostic tool. Clinical WES may be underutilized due to provider discomfort in ordering the test or perceived costliness. At our hospital WES is not routinely performed for patients with EOEE due to limited insurance reimbursement. In fact for any patient with noncommercial insurance (Medicaid) the institution does not allow sending out WES as this is not "established"/"proven to be highly useful and cost effective"/"approved test" in patients with epilepsy. Recently, we performed WES on four patients from three families and identified novel mutations in known epilepsy genes in all four cases. These patients had State Medicaid as their insurance carrier and were followed up for several years for EOEE while being worked up using the traditional/approved testing methods. Following a recently proposed diagnostic pathway, we analyzed the cost savings (US dollars) that could be accrued if WES was performed earlier in the diagnostic odyssey. This is the first publication that addresses the dollar cost of traditional testing in EOEE as performed in these four cases versus WES and the potential cost savings.