An Unusual Case of Abdominal Pain in a Geriatric Man.

BACKGROUND: Immunoglobulin A vasculitis, historically known as Henoch-Schönlein purpura, is a rare form of autoimmune-induced vasculitis most common in children. This disease is characterized by a purpuric rash, arthritis, digestive tract complication, and renal inflammation (Hopkins). CASE REPORT: We present the case of a 78-year-old man in the emergency department with findings of weakness, abdominal pain, and bloody diarrhea for 3 days and a new-onset bilateral lower extremity rash. Diagnostic imaging and labs diagnosed this patient with immunoglobulin A vasculitis (IgAV) with associated acute kidney injury and abdominal mesenteric edema. Why Should an Emergency Physician be Aware of This? Recognition of IgAV by emergency physicians and assessment of multiple organ involvement is critical to expedite treatment and minimize complications. Particularly, physicians should consider and recognize the increased severity and different presentation of IgAV in adults in comparison with the more widely known manifestation in children.

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.

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.

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.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39%). Pathogenic variants were found in 49 genes and included missense variants (49%), large copy number changes (18%), small insertions and deletions (18%), nonsense variants (8%), splice-site alterations (6%), and promoter variants (<1%). The diagnostic rate varied considerably based on phenotype and was highest for patients with a positive family history of hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified. METHODS: We performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family. RESULTS: We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1. Bioinformatics analysis and expression studies support this gene as being causative of ANSD. CONCLUSIONS: Variants in AIFM1 gene are a common cause of familial and sporadic ANSD and provide insight into the expanded spectrum of AIFM1-associated diseases. The finding of cochlear nerve hypoplasia in some patients was AIFM1-related ANSD implies that MRI may be of value in localising the site of lesion and suggests that cochlea implantation in these patients may have limited success.

A Home-Based Intervention's Impact on Caregiver Burden for Veterans With Dependence Performing Activities of Daily Living: An Interdisciplinary Approach.

The Veterans Health Administration offers multiple programs to support veteran's caregivers. This study examines one such program, modeled after the national VHA Home Based Primary Care Program (HBPC). A retrospective secondary data analysis was conducted on the VHA GAP program, examining the impact on reducing caregiver burden. Findings from examination of 48 veteran/caregiver dyads indicated the program had a clinically and statistically significant impact on decreasing caregiver role strain. These findings were compared to the national evidence-based HBPC program, finding no significant differences in decrease of caregiver burden between the recipients of the GAP program and the national HBPC programs.

An unusual case of an icteric infant with abdominal distention.

BACKGROUND: Jaundiced infants are uncommon in most emergency departments (EDs). Biliary rupture remains one of the more rare and less described causes of this condition. CASE REPORT: A 5-month-old male presented to our ED with scleral icterus, increasing abdominal distention, and increased irritability. A bedside ultrasound revealed a moderate amount of ascites and further imaging suggested he had a rupture of his common bile duct. Surgical exploration confirmed this and revealed the presence of choledocholithiasis, which was the likely cause of the rupture. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Biliary rupture remains a rare but serious condition in very young patients. Emergency physicians should consider bedside ultrasound as an adjunct in undifferentiated abdominal distention or jaundice in this patient population.

Helen Hudson Lecture. Positive practice change using appreciative inquiry in oncology primary care nursing.

Ambulatory oncology nurses struggle to meet the increasing demands placed on them. Increased volume of patients, more complex treatments and symptom management, an older population with multiple co-morbidities combined with fiscal and human resource restraints has created job dissatisfaction and the feeling of powerlessness in the current environment. The Appreciative Inquiry process enables nurses to become engaged in planning and creating positive change based on their knowledge, experiences and clinical expertise, as oncology professionals. Through surveys and group work, nurses in this project were able to turn theory into positive practice change, inspiring a new paradigm of primary oncology nursing. Through the promotion of innovation, we have inspired hope while advocating for our profession.