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1.
Ann Fam Med ; (20 Suppl 1)2022 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36857207

RESUMEN

Context Moore's Expanded Outcomes Framework is a 7 level framework commonly used to assess the outcomes of continuing medical education (CME) programs. Levels 1 to 5 are provider-level outcomes (participation, satisfaction, knowledge, competence, and performance) while levels 6 and 7 are patient- and community-level outcomes. Chart reviews are one method to assess level 5 (performance). ECHO Ontario Chronic Pain and Opioid Stewardship ("ECHO") is a CME telementoring program that aims to increase capacity and access for primary care providers (PCPs) who manage patients with chronic pain. Objective This study uses chart reviews to evaluate ECHO's impact on PCP performance and to discuss the feasibility of performing chart reviews for evaluation purposes as per Moore's framework. Study Design Retrospective chart review Setting The practices of 12 primary care providers across Ontario who attended ECHO between June 2014 to August 2018. The inclusion criteria for PCPs was 1) attended a minimum of four ECHO sessions, and 2) clinic site must be approving of a site visit for chart reviews. Population Studied 47 patient charts were included. For each patient chart reviewed, PCPs were asked to choose patients in their practice on whom they had used ECHO-taught knowledge. Inclusion criteria for patients was 1) have chronic pain and be managed by the ECHO-participating PCP, 2) was prescribed opioids during the time frame of the study, and 3) not presented during ECHO sessions. Informed consent was obtained prior to each site visit. 1) Increased use of ECHO-taught pain and opioid management strategies 2) Feasibility of using chart reviews to evaluate PCP performance following a CME activity Results 25 (53%) patients were male and the average age was 59 (± 14) years. 24 (51%) patients had two or more pain diagnoses at baseline, with musculoskeletal pain being the most prevalent at 81%. 26 (55%) patients had comorbid mental health conditions and 13 (28%) had sleep disorders. Trends in results showed marginal, but non-significant, improvements in PCP performance after ECHO as indicated by increased use of pain and opioid management strategies. Conclusions Conducting chart reviews was a challenging method to assess provider performance. Future work to assess provider performance should include a qualitative component (in-depth interviews or focus groups) in order to complement the quantitative data and provide context for care and management decisions.


Asunto(s)
Dolor Crónico , Humanos , Masculino , Persona de Mediana Edad , Femenino , Analgésicos Opioides , Educación Médica Continua , Estudios Retrospectivos , Instituciones de Atención Ambulatoria
2.
Ann Fam Med ; (20 Suppl 1)2022 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36706423

RESUMEN

Context The impact of the COVID-19 pandemic on health care service and delivery has been profound. In addition to shifting and expanding clinical responsibilities, rapidly evolving information and guidelines during the COVID-19 pandemic has made it difficult for healthcare workers (HCWs) to synthesize and translate COVID-19 information into practice. Objective The objectives of this study are 1) to examine the impact of a telemedicine education program on HCW's self-efficacy and satisfaction and 2) to explore HCWs' experience in the program and context of practice during the COVID-19 pandemic. Study Design We conducted a prospective mixed methods parallel-design study among ECHO COVID participants using pre-post questionnaires and focus group discussions (FGDs). We examined questionnaire results for changes in HCWs' self-efficacy and satisfaction. We analyzed FGD data to explore HCWs' experience in ECHO and the context of their practice during the COVID-19 pandemic. Setting Project Extension for Community Healthcare Outcomes (ECHO) model is a virtual, telemedicine education model that provides longitudinal support and addresses the emerging needs of HCWs. "ECHO Ontario: Managing COVID-19 Patients in the Community" (ECHO) was launched in July 2020. The goal of the program was to disseminate best practices regarding COVID-19 as they emerged and to increase HCW confidence and knowledge of COVID-19. Population Studied The study population were practicing HCWs in the province of Ontario, Canada. 1) HCW self-efficacy 2) HCW satisfaction Results Of 299 HCWs registered in ECHO COVID, 114 (38.1%) participated in this analysis. Median self-efficacy scores increased from 5 (IQR 4 - 6) to 6 (IQR 6 - 6) (p < 0.0001), independent of profession, years in practice, age group, or type of practice environment. Participants were highly satisfied with the ECHO sessions with a median score of 4 (IQR 4 - 5). FGD data indicated that HCWs gained knowledge through ECHO, established the context of their practice, and revealed facilitators for ECHO program success, including the transition to virtual care, the practicability of knowledge provided, and a "perspective from the trenches." Conclusions This study demonstrated that a telemedicine education program aimed to support HCWs in managing patients with COVID-19 had a positive impact on self-efficacy and satisfaction, and that this impact was specifically mediated through the ECHO program.


Asunto(s)
COVID-19 , Telemedicina , Humanos , COVID-19/epidemiología , Ontario , Pandemias , Estudios Prospectivos , Personal de Salud
3.
Curr Opin Organ Transplant ; 27(4): 351-362, 2022 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-36354262

RESUMEN

PURPOSE OF REVIEW: Heart transplantation remains the gold standard therapy for end stage heart failure, but barriers remain, preventing equitable access to and affecting outcomes following transplantation. The objective of this review is to summarize current and historical literature on the disparities that persist, and to highlight the gaps in evidence for further investigation. RECENT FINDINGS: Although progress has been made to increase the rates of advanced heart failure therapies to racial/ethnic minority populations and those with lower socioeconomic status, differential access and outcomes remain. The disparities that persist are categorized by patient demographics, social influences, geopolitical factors, and provider bias. SUMMARY: Disparities in heart transplantation exist, which span a wide spectrum. Healthcare professionals need to be cognizant of these disparities that patients face in terms of access to and outcomes for heart transplantation. Further research and system changes are needed to make heart transplantation a fairer option for patients of varying backgrounds with end stage heart failure.


Asunto(s)
Insuficiencia Cardíaca , Trasplante de Corazón , Humanos , Disparidades en Atención de Salud , Etnicidad , Accesibilidad a los Servicios de Salud , Grupos Minoritarios , Trasplante de Corazón/efectos adversos , Insuficiencia Cardíaca/cirugía
4.
J Med Internet Res ; 23(11): e28946, 2021 11 09.
Artículo en Inglés | MEDLINE | ID: mdl-34751659

RESUMEN

BACKGROUND: Nonvalvular atrial fibrillation (NVAF) affects almost 6 million Americans and is a major contributor to stroke but is significantly undiagnosed and undertreated despite explicit guidelines for oral anticoagulation. OBJECTIVE: The aim of this study is to investigate whether the use of semisupervised natural language processing (NLP) of electronic health record's (EHR) free-text information combined with structured EHR data improves NVAF discovery and treatment and perhaps offers a method to prevent thousands of deaths and save billions of dollars. METHODS: We abstracted 96,681 participants from the University of Buffalo faculty practice's EHR. NLP was used to index the notes and compare the ability to identify NVAF, congestive heart failure, hypertension, age ≥75 years, diabetes mellitus, stroke or transient ischemic attack, vascular disease, age 65 to 74 years, sex category (CHA2DS2-VASc), and Hypertension, Abnormal liver/renal function, Stroke history, Bleeding history or predisposition, Labile INR, Elderly, Drug/alcohol usage (HAS-BLED) scores using unstructured data (International Classification of Diseases codes) versus structured and unstructured data from clinical notes. In addition, we analyzed data from 63,296,120 participants in the Optum and Truven databases to determine the NVAF frequency, rates of CHA2DS2­VASc ≥2, and no contraindications to oral anticoagulants, rates of stroke and death in the untreated population, and first year's costs after stroke. RESULTS: The structured-plus-unstructured method would have identified 3,976,056 additional true NVAF cases (P<.001) and improved sensitivity for CHA2DS2-VASc and HAS-BLED scores compared with the structured data alone (P=.002 and P<.001, respectively), causing a 32.1% improvement. For the United States, this method would prevent an estimated 176,537 strokes, save 10,575 lives, and save >US $13.5 billion. CONCLUSIONS: Artificial intelligence-informed bio-surveillance combining NLP of free-text information with structured EHR data improves data completeness, prevents thousands of strokes, and saves lives and funds. This method is applicable to many disorders with profound public health consequences.


Asunto(s)
Fibrilación Atrial , Accidente Cerebrovascular , Anciano , Anticoagulantes , Inteligencia Artificial , Fibrilación Atrial/tratamiento farmacológico , Fibrilación Atrial/prevención & control , Estudios de Casos y Controles , Registros Electrónicos de Salud , Humanos , Procesamiento de Lenguaje Natural , Medición de Riesgo , Factores de Riesgo , Accidente Cerebrovascular/prevención & control
5.
J Interprof Care ; 35(3): 464-467, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32148115

RESUMEN

Chronic pain is a complex multidimensional condition that requires management with multiple professions' expertise. Healthcare training programs tend to adhere to curricula within their own profession with very few interactions with other groups. Project ECHO (Extension for Community Healthcare Outcomes) Chronic Pain and Opioid Stewardship is a model for interprofessional education, using tele-mentoring, case-base discussions and clinically focused presentations. The goal is to improve competency and confidence in managing complex cases in primary care. This qualitative study engaged twenty healthcare practitioners from multiple professions who had participated in ECHO in focus group discussions about managing patients with chronic pain, about their reasons for and the effect of participating in Project ECHO Ontario Chronic Pain/Opioid Stewardship, and about their perspectives on interprofessional care. The results show that participating in ECHO resulted in personal and professional benefit, and increased understanding about their own roles and limitations, as well as other healthcare professionals' roles. The participants described changes in their attitudes toward patients with chronic pain, and their colleagues from other professions. Non-physician participants were more likely to approach physicians to discuss their assessment and diagnosis as well as prescriptions. The interprofessional nature of the program was seen as positive and contributed to perceived changes in practice collaboration. These results show that healthcare professionals from multiple professions expressed mainly positive views of ECHO's emphasis on interprofessional care, with different professions appreciating different aspects of that approach.


Asunto(s)
Dolor Crónico , Manejo del Dolor , Dolor Crónico/terapia , Personal de Salud , Humanos , Relaciones Interprofesionales , Atención Primaria de Salud
6.
J Surg Res ; 252: 264-271, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32402396

RESUMEN

Clinical informatics is an interdisciplinary specialty that leverages big data, health information technologies, and the science of biomedical informatics within clinical environments to improve quality and outcomes in the increasingly complex and often siloed health care systems. Core competencies of clinical informatics primarily focus on clinical decision making and care process improvement, health information systems, and leadership and change management. Although the broad relevance of clinical informatics is apparent, this review focuses on its application and pertinence to the discipline of surgery, which is less well defined. In doing so, we hope to highlight the importance of the surgeon informatician. Topics covered include electronic health records, clinical decision support systems, computerized order entry, data analytics, clinical documentation, information architectures, implementation science, quality improvement, simulation, education, and telemedicine. The formal pathway for surgeons to become clinical informaticians is also discussed.


Asunto(s)
Cirugía General/organización & administración , Informática Médica/organización & administración , Rol Profesional , Cirujanos/organización & administración , Sistemas de Apoyo a Decisiones Clínicas/organización & administración , Humanos
7.
J Wound Care ; 28(Sup5): S12-S19, 2019 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-31067171

RESUMEN

OBJECTIVE: Pilonidal disease (PD) with inflammation and abscess formation occurs frequently in adolescents. The management of pilonidal disease, time to wound healing, and patient satisfaction, however remains variable despite advances in wound care methods. Porcine bladder extracellular matrix (PBEM) facilitates site-specific tissue deposition/re-growth for the management of a variety of wounds. The aim was to describe the use and outcomes of PBEM in PD at a single centre. METHOD: A retrospective chart review of adolescent patients who underwent treatment of pilonidal disease with PBEM between 2012 and 2016 at a single institution, was undertaken. Patient demographics and clinical characteristics were collected and compared with historical controls and literature regarding traditional wound therapies. RESULTS: We reviewed 52 pilonidal disease wounds on 41 patients. Of these 36 were treated with PBEM. The average age was 16 years old at the time of operation with 39% male. Furthermore, 85% were being treated for recurrent pilonidal disease. Follow-up was available by chart review for 89% of patients with documented complete wound healing in 78% of patients treated with PBEM at an average of two months. Subjective reports included majority positive experience with PBEM dressing, minimal pain and overall high levels of patient satisfaction. There were three patients in which pilonidal disease recurred within two years of initial treatment and underwent repeat treatment with PBEM. There was one patient who transitioned to wet-to-dry saline dressings because of difficulty keeping the PBEM dressing intact. CONCLUSION: Advances in wound care technology include materials such as PBEM to promote site-specific tissue deposition. Follow-up phone calls and a prospective study to compare alternative wound care with porcine PBEM in the management of pilonidal disease is underway to better quantify time to wound healing and patient satisfaction.


Asunto(s)
Matriz Extracelular , Satisfacción del Paciente , Seno Pilonidal/terapia , Vejiga Urinaria , Adolescente , Animales , Femenino , Humanos , Entrevistas como Asunto , Masculino , Porcinos , Cicatrización de Heridas
8.
J Surg Res ; 232: 389-397, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30463746

RESUMEN

BACKGROUND: A recent ransomware attack led to the shutdown of the electronic health information system (HIS) at our trauma center for 2 mo. We investigated its impact on residency training during the downtime. MATERIAL AND METHODS: General and orthopedic surgical residents who rotated at the hospital were invited to participate in a survey regarding their patient care and residency training experiences during the downtime. Attending surgeons from both the specialties were invited to participate in a semistructured interview regarding their attitude toward residency training during the downtime. RESULTS: Twenty-nine residents responded to the survey with a response rate of 78.4%. Residents acknowledged significant increases in face-to-face communication and decreases in use of online educational resources during the downtime (P < 0.01). Residents were significantly stressed by the dearth of online resources (P < 0.0001) and by paper-based orders and outpatient clinic (P < 0.05). A multivariate analysis demonstrated an inverse relationship between postgraduate year and stress from paper orders (P = 0.003). Attending surgeon's interviews revealed that they recognized residents' unpreparedness and strove harder to teach more effectively. CONCLUSIONS: Our study demonstrated that an unexpected shutdown of the hospital HIS imposed significant stress upon surgical residents providing trauma patient care and made attending surgeons take greater efforts to be more effective teachers. Residents who are digital natives lack adaptability to handle a paper-based workflow. With cyber security threats increasing in health care, preparedness should be included in the graduate medical education curriculum.


Asunto(s)
Actitud del Personal de Salud , Urgencias Médicas/psicología , Hospitales Especializados/organización & administración , Internado y Residencia/organización & administración , Heridas y Lesiones/cirugía , Adulto , Anciano , Competencia Clínica , Seguridad Computacional , Femenino , Cirugía General/educación , Sistemas de Información en Hospital , Mortalidad Hospitalaria , Humanos , Puntaje de Gravedad del Traumatismo , Internado y Residencia/estadística & datos numéricos , Tiempo de Internación/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Estrés Laboral/psicología , Ortopedia/educación , Cirujanos/psicología , Cirujanos/estadística & datos numéricos , Encuestas y Cuestionarios/estadística & datos numéricos , Resultado del Tratamiento , Flujo de Trabajo , Heridas y Lesiones/diagnóstico , Heridas y Lesiones/mortalidad
9.
Pain Med ; 19(6): 1140-1146, 2018 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-29036381

RESUMEN

Objective: Family physicians in Canada receive little training in chronic pain management; concomitantly, they face increasing pressure to reduce their prescribing of opioids. Project ECHO Ontario Chronic Pain/Opioid Stewardship (ECHO) is a telementoring intervention for primary care practitioners that enhances their pain management skills. This qualitative study reports participants' experiences and assessment of ECHO. Design: An opportunistic sample of multidisciplinary primary care providers attending one of three residential weekend workshops participated in focus group discussions. Setting: University or hospital facilities in Toronto, Thunder Bay, and Kingston, Ontario, Canada. Subjects: Seventeen physicians and 20 allied health professionals. Methods: Six focus group discussions were conducted at three different sites during 2014 and 2015. Transcripts were analyzed using a qualitative-descriptive approach involving analytic immersion in the data, reflection, and achieving consensus around themes discerned from transcribed discussions. Results: Findings resolved into five main themes: 1) challenges of managing chronic pain in primary care; 2) ECHO participation and improvement in patient-provider interaction and participant knowledge; 3) the diffusion of knowledge gained through ECHO to participants' colleagues and patients; 4) ECHO participation generating a sense of community; and 5) disadvantages associated with participating in ECHO. Conclusions: Managing patients with chronic pain in primary care can be difficult, particularly in remote or underserved practices. Project ECHO offers guidance to primary care practitioners for their most challenging patients, promotes knowledge acquisition and diffusion, and stimulates the development of a "community of practice."


Asunto(s)
Tutoría/métodos , Manejo del Dolor/métodos , Médicos de Atención Primaria/educación , Telemedicina/métodos , Técnicos Medios en Salud/educación , Canadá , Dolor Crónico , Femenino , Grupos Focales , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Investigación Cualitativa
10.
J Wound Care ; 27(Sup9): S11-S14, 2018 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-30207839

RESUMEN

A case report of a 17-year-old female with a complex, non-healing, two-month-old wound, wherein exposed fibula was evident. On assessment, the wound measured 35cm in length, 3cm in width, and was 1cm deep, along the lateral aspect of the left lower leg. A rim of granulation tissue was visible along the wound edge. The exposed bone measured 20cm in length, and was 3cm wide. Porcine-derived, extracellular matrix (ECM) biological scaffold was placed on the wound bed to facilitate regeneration of the patient's skeletal muscle. The patient healed without incident postoperatively and was able to regain her ambulatory ability. This technique has, in the authors' experience, proved successful and without complication in complex non-healing wound cases, particularly in patients who have lost a large volume of skeletal muscle. The authors believe that patients and surgeons would benefit from early consideration of ECM biological scaffolds in similar types of large, open, and complex wounds.


Asunto(s)
Matriz Extracelular , Peroné , Úlcera de la Pierna/terapia , Músculo Esquelético/lesiones , Trastornos Relacionados con Sustancias , Andamios del Tejido , Adolescente , Animales , Femenino , Humanos , Músculo Esquelético/fisiopatología , Porcinos , Cicatrización de Heridas
11.
Mol Ther ; 21(9): 1678-86, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23836017

RESUMEN

The tumor suppressor, microRNA-34 (miR-34), a transcriptional target of TP53, functions in a positive feedback loop to activate TP53. Although miR-34 can inhibit cancer cells carrying TP53 mutations, this feedback to TP53 may be a prerequisite for full miR-34 function and may restrict its therapeutic application to patients with intact TP53. To investigate the functional relationships between TP53 and miR-34, and that of other TP53-regulated miRNAs including miR-215/192, we have used a panel of isogenic cancer cell lines that differ only with respect to their endogenous TP53 status. miR-34-induced inhibition of cancer cell growth is the same in TP53-positive and TP53-negative cells. In contrast, miR-215/192 functions through TP53. In the absence of TP53, miR-34, but not miR-215/192, is sufficient to induce an upregulation of the cell cycle-dependent kinase inhibitor p21(CIP1/WAF1). We identify histone deacetylase 1 (HDAC1) as a direct target of miR-34 and demonstrate that repression of HDAC1 leads to an induction of p21(CIP1/WAF1) and mimics the miR-34 cellular phenotype. Depletion of p21(CIP1/WAF1) specifically interferes with the ability of miR-34 to inhibit cancer cell proliferation. The data suggest that miR-34 controls a tumor suppressor pathway previously reserved for TP53 and provides an attractive therapeutic strategy for cancer patients irrespective of TP53 status.


Asunto(s)
Puntos de Control del Ciclo Celular , Proliferación Celular , Inhibidor p21 de las Quinasas Dependientes de la Ciclina/genética , Histona Desacetilasa 1/genética , MicroARNs/genética , MicroARNs/uso terapéutico , Proteína p53 Supresora de Tumor/metabolismo , Línea Celular Tumoral , Inhibidor p21 de las Quinasas Dependientes de la Ciclina/metabolismo , Represión Enzimática , Regulación Neoplásica de la Expresión Génica , Histona Desacetilasa 1/metabolismo , Humanos , Neoplasias/genética , Neoplasias/metabolismo , Neoplasias/fisiopatología , Neoplasias/terapia , Proteína p53 Supresora de Tumor/genética
12.
Surg Clin North Am ; 103(6): 1085-1095, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37838457

RESUMEN

In this review article, we aim to provide an overview of common and uncommon general surgery thoracic emergencies as well as basic thoracic anatomy, common diagnostic tests, and operative positioning and access considerations. We also describe specific thoracic procedures. We hope that this article simplifies some of the challenges associated with the management of thoracic emergencies.


Asunto(s)
Fracturas de las Costillas , Cirujanos , Traumatismos Torácicos , Heridas no Penetrantes , Humanos , Traumatismos Torácicos/complicaciones , Traumatismos Torácicos/diagnóstico , Traumatismos Torácicos/cirugía , Urgencias Médicas , Heridas no Penetrantes/complicaciones , Heridas no Penetrantes/diagnóstico , Heridas no Penetrantes/cirugía , Fracturas de las Costillas/complicaciones , Fracturas de las Costillas/diagnóstico
13.
Innovations (Phila) ; 18(6): 531-534, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37997914

RESUMEN

This case series describes 2 patients who underwent a single anesthesia strategy for definitive management of bilateral ground-glass opacities harboring adenocarcinoma-spectrum lesions using robotic navigational localization paired with robotic thoracoscopic resection.


Asunto(s)
Adenocarcinoma , Anestesia , Neoplasias Pulmonares , Procedimientos Quirúrgicos Robotizados , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/cirugía , Neoplasias Pulmonares/patología , Neumonectomía , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/cirugía
14.
Res Sq ; 2023 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-37790478

RESUMEN

Background: Despite thousands of variants identified by genome-wide association studies (GWAS) to be associated with autism spectrum disorder (ASD), it is unclear which mutations are causal because most are noncoding. Consequently, reliable diagnostic biomarkers are lacking. RNA-seq analysis captures biomolecular complexity that GWAS cannot by considering transcriptomic patterns. Therefore, integrating DNA and RNA testing may reveal causal genes and useful biomarkers for ASD. Methods: We performed gene-based association studies using an adaptive test method with GWAS summary statistics from two large Psychiatric Genomics Consortium (PGC) datasets (ASD2019: 18,382 cases and 27,969 controls; ASD2017: 6,197 cases and 7,377 controls). We also investigated differential expression for genes identified with the adaptive test using an RNA-seq dataset (GSE30573: 3 cases and 3 controls) and DESeq2. Results: We identified 5 genes significantly associated with ASD in ASD2019 (KIZ-AS1, p = 8.67×10- 10; KIZ, p = 1.16×10- 9; XRN2, p = 7.73×10- 9; SOX7, p = 2.22×10- 7; LOC101929229 (also known as PINX1-DT), p = 2.14×10- 6). Two of the five genes were replicated in ASD2017: SOX7 (p = 0.00087) and LOC101929229 (p = 0.009), and KIZ was close to the replication boundary of replication (p = 0.06). We identified significant expression differences for SOX7 (p = 0.0017, adjusted p = 0.0085), LOC101929229 (p = 5.83×10- 7, adjusted p = 1.18×10- 5), and KIZ (p = 0.00099, adjusted p = 0.0055). SOX7 encodes a transcription factor that regulates developmental pathways, alterations in which may contribute to ASD. Limitations: The limitation of the gene-based analysis is the reliance on a reference population for estimating linkage disequilibrium between variants. The similarity of this reference population to the population of study is crucial to the accuracy of many gene-based analyses, including those performed in this study. As a result, the extent of our findings is limited to European populations, as this was our reference of choice. Future work includes a tighter integration of DNA and RNA information as well as extensions to non-European populations that have been under-researched. Conclusions: These findings suggest that SOX7 and its related SOX family genes encode transcription factors that are critical to the downregulation of the canonical Wnt/ß-catenin signaling pathway, an important developmental signaling pathway, providing credence to the biologic plausibility of the association between gene SOX7 and autism spectrum disorder.

15.
bioRxiv ; 2023 May 28.
Artículo en Inglés | MEDLINE | ID: mdl-37292933

RESUMEN

Background: Genome-wide association studies and next generation sequencing data analyses based on DNA information have identified thousands of mutations associated with autism spectrum disorder (ASD). However, more than 99% of identified mutations are non-coding. Thus, it is unclear which of these mutations might be functional and thus potentially causal variants. Transcriptomic profiling using total RNA-sequencing has been one of the most utilized approaches to link protein levels to genetic information at the molecular level. The transcriptome captures molecular genomic complexity that the DNA sequence solely does not. Some mutations alter a gene's DNA sequence but do not necessarily change expression and/or protein function. To date, few common variants reliably associated with the diagnosis status of ASD despite consistently high estimates of heritability. In addition, reliable biomarkers used to diagnose ASD or molecular mechanisms to define the severity of ASD do not exist. Objectives: It is necessary to integrate DNA and RNA testing together to identify true causal genes and propose useful biomarkers for ASD. Methods: We performed gene-based association studies with adaptive test using genome-wide association studies (GWAS) summary statistics with two large GWAS datasets (ASD 2019 data: 18,382 ASD cases and 27,969 controls [discovery data]; ASD 2017 data: 6,197 ASD cases and 7,377 controls [replication data]) which were obtained from the Psychiatric Genomics Consortium (PGC). In addition, we investigated differential expression for genes identified in gene-based GWAS with a RNA-seq dataset (GSE30573: 3 cases and 3 controls) using the DESeq2 package. Results: We identified 5 genes significantly associated with ASD in ASD 2019 data (KIZ-AS1, p=8.67×10-10; KIZ, p=1.16×10-9; XRN2, p=7.73×10-9; SOX7, p=2.22×10-7; PINX1-DT, p=2.14×10-6). Among these 5 genes, gene SOX7 (p=0.00087), LOC101929229 (p=0.009), and KIZ-AS1 (p=0.059) were replicated in ASD 2017 data. KIZ (p=0.06) was close to the boundary of replication in ASD 2017 data. Genes SOX7 (p=0.0017, adjusted p=0.0085), LOC101929229 (also known as PINX1-DT, p=5.83×10-7, adjusted p=1.18×10-5), and KIZ (p=0.00099, adjusted p=0.0055) indicated significant expression differences between cases and controls in the RNA-seq data. SOX7 encodes a member of the SOX (SRY-related HMG-box) family of transcription factors pivotally contributing to determining of the cell fate and identity in many lineages. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins leading to autism. Conclusion: Gene SOX7 in the transcription factor family could be associated with ASD. This finding may provide new diagnostic and therapeutic strategies for ASD.

16.
Can J Pain ; 4(1): 111-121, 2020 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-33987490

RESUMEN

BACKGROUND: Chronic pain affects one in five Canadians. Frontline health care providers (HCPs) manage the majority of patients with chronic pain yet receive minimal training to do so. The Extension for Community Healthcare Outcomes (ECHO) model™ is an education intervention aimed at HCPs (not patients) to support and improve care in underserviced communities. ECHO Ontario Chronic Pain and Opioid Stewardship (ECHO PAIN) is an adaptation of the ECHO model where the program goals are to support and improve chronic pain and opioid management in the province of Ontario, Canada. AIMS: This study aimed to investigate the perceptions of HCPs participating in ECHO PAIN. METHODS: Thirteen HCPs attending ECHO PAIN participated in in-depth semistructured phone interviews. Resulting data were analyzed through a qualitative descriptive lens. RESULTS: Analysis uncovered four themes: (1) HCPs' motivation for joining ECHO PAIN, (2) interprofessional collaboration through ECHO PAIN, (3) the use of opioids for pain management, and (4) barriers and facilitators to participation and satisfaction in ECHO PAIN. HCPs joined ECHO PAIN because of their struggles managing their complex patients with chronic pain. HCPs also recognized the importance of interprofessional collaboration in pain management and shared examples of integration of different professional approaches in their clinical teams. Opioids for pain management remained a controversial issue, and ECHO served as an opportunity to decrease this knowledge gap. Finally, HCPs described how time constraints, organizational support, and session structure acted as barriers to their participation and satisfaction in the ECHO PAIN program; technology mediated satisfaction. CONCLUSIONS: This study was the first in Canada to explore the motivations of HCPs in attending a chronic pain telementoring program as well as to examine the interprofessional effects of participation. HCPs increased their knowledge about management of chronic pain and increased their interprofessional approach.


Contexte: La douleur chronique touche un Canadien sur cinq. Les prestataires de soins de santé de première ligne prennent en charge la majorité des patients souffrant de douleur chronique, mais reçoivent une formation minimale pour le faire. Le modèle Extension for Community Healthcare Outcomes ™ (ECHO) est une intervention éducative destinée aux prestataires de soins de santé (et non aux patients) pour soutenir et améliorer les soins dans les communautés mal desservies. Le programme ECHO Ontario Chronic Pain and Opioid Stewardship (ci-après appelé « ECHO PAIN ¼) est une adaptation du modèle ECHO dont les objectifs sont de soutenir et d'améliorer la prise en charge de la douleur chronique et la gestion des opioïdes dans la province de l'Ontario, au Canada.Objectifs: Cette étude visait à étudier les perceptions des prestataires de soins de santé participant au programme ECHO PAIN.Méthodes: Treize prestataires de soins de santé participant au programme ECHO PAIN ont participé à des entretiens téléphoniques semi-structurés approfondis. Les données découlant de ces entretiens ont été analysées à l'aide d'une grille descriptive qualitative.Résultats: L'analyse a révélé quatre thèmes : 1) la motivation des prestataires de soins de santé à participer au programme ECHO PAIN ; 2) la collaboration interprofessionnelle dans le cadre du programme ECHO PAIN ; 3) l'utilisation des opioïdes pour la prise en charge de la douleur et 4) les barrières et les facilitateurs en ce qui en trait à la participation au programme ECHO PAIN et à la satisfaction à l'égard de celui-ci. Les prestataires de soins de santé se sont joints à ECHO PAIN en raison de leurs difficultés à prendre en charge leurs patients complexes souffrant de douleur chronique. Les prestataires de soins de santé ont également reconnu l'importance de la collaboration interprofessionnelle dans la prise en charge de la douleur et ont partagé des exemples d'intégration de différentes approches professionnelles dans leurs équipes cliniques. Les opioïdes pour la prise en charge de la douleur sont demeurés une question controversée, et ECHO a permis de réduire ces lacunes dans les connaissances. Enfin, les prestataires de soins de santé ont décrit comment les contraintes de temps, le soutien organisationnel et la structure des sessions ont constitué des obstacles à leur participation au programme ECHO PAIN et à leur satisfaction à l'égard de celui-ci, tandis que la technologie a favorisé leur satisfaction.Conclusions: Cette étude a été la première au Canada à étudier les motivations des prestataires de soins de santé à participer à un programme de télémentorat sur la douleur chronique, ainsi qu'à examiner les effets interprofessionnels de la participation à ce programme. Les prestataires de soins de santé ont amélioré leurs connaissances sur la prise en charge des patients souffrant de douleur chronique et ont renforcé leur approche interprofessionnelle.

17.
J Perinatol ; 40(8): 1228-1235, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32483142

RESUMEN

OBJECTIVES: To describe variations in timing of gastrostomy tube (GT) placement for neonates undergoing tracheostomy. METHODS: Database study of neonates undergoing tracheostomy and GT placement using the Pediatric Health Information System (2012-2015). The primary outcome was timing of GT relative to tracheostomy. Logistic regression evaluated associations of patient- and hospital-level characteristics with GT timing. RESULTS: Of 1156 patients undergoing GT and tracheostomy placement, 42.4% had concurrent GT placement, 23.3% GT placement prior to tracheostomy, and 34.3% GT placement after tracheostomy. The proportion of patients undergoing concurrent placement ranged from 0 to 80% among 47 hospitals. Neonates born at 31-35 weeks, having cardiovascular comorbidities, history of diaphragmatic hernia repair, or gastroesophageal reflux disorder were more likely to receive GT placement prior to tracheostomy. CONCLUSION: Significant variability exists in the timing of neonatal tracheostomy and GT placement. Opportunities may exist to optimize coordination of care for neonates and reduce anesthetic exposure and hospital resource utilization.


Asunto(s)
Gastrostomía , Traqueostomía , Niño , Comorbilidad , Humanos , Recién Nacido , Modelos Logísticos , Estudios Retrospectivos
18.
Am J Surg ; 218(4): 792-797, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31345504

RESUMEN

BACKGROUND: Blogging is a new and innovative means of information exchange in the surgical community. We examined the Association of Women Surgeons (AWS) blog to understand its audience and most read content. METHODS: Google Analytics was used to assess the AWS blog site data. A search was performed from February 2018 to February 2019. Demographic data, blog posts, and tags sorted by unique pageviews were recorded. RESULTS: There were 31,221 unique pageviews during the search period. The AWS Blog readership was mostly women (75%), ages 25-44 years (70.3%). The three tags that elicited the most pageviews were "residency (16.95%)," "medical students (12.12%)," and "family life (10.38%)." The most read blog post was responsible for 9.7% of total pageviews. DISCUSSION & CONCLUSION: Most of the AWS Blog readership are young, women, and interested in content related to graduate and postgraduate medical education or family life. Blogging may be a good vehicle for topics not covered in traditional scientific literature.


Asunto(s)
Blogging , Difusión de la Información , Especialidades Quirúrgicas , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
19.
J Surg Educ ; 76(2): 512-518, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30253982

RESUMEN

OBJECTIVE: The electronic health record (EHR) has been faulted for the erosion of interprofessional communication and the patient-physician relationship. Surgical residents may be susceptible to communication workarounds facilitated by the EHR, but the full extent is not well understood. A recent ransomware attack with the abrupt return to paper charting provided a unique opportunity to investigate the impact of the EHR on surgical residents' interprofessional communication. We sought to explore how surgical residents perceived communications during the 2-month period when the EHR was inaccessible. DESIGN: General surgery residents who rotated through the regional tertiary referral medical center and level I trauma center were invited to participate in a semistructured interview about communication with one another, faculty, staff, and patients during the downtime. A grounded theory approach was used to analyze the data. SETTING: Regional tertiary referral medical center and level I trauma center. PARTICIPANTS: General surgery residents who rotated through the affected site. RESULTS: Ten general surgery residents were interviewed. Interviews revealed that the abrupt loss of the EHR impacted communication in three major ways: (1) engendered more professional courtesy and collegiality, (2) prioritized bedside patient care over documentation demands, and (3) encouraged more explicit and deliberate communications. CONCLUSIONS: Our study demonstrates that the loss of the EHR encourages surgery residents interprofessional communication. With healthcare becoming increasingly digital, active efforts should be made to preserve the communication benefits by optimizing existing and emerging technology to facilitate direct face-to-face interactions.


Asunto(s)
Registros Electrónicos de Salud , Cirugía General/educación , Sistemas de Información en Hospital , Comunicación Interdisciplinaria , Internado y Residencia , Femenino , Humanos , Masculino , Relaciones Médico-Paciente
20.
J Clin Med ; 9(1)2019 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-31861584

RESUMEN

A weekly tele-mentoring program was implemented in Ontario to help address the growing opioid crisis through teaching and mentoring family physicians on the management of chronic pain and opioid prescribing. This study assessed opioid prescribing behaviours among family physicians who attended the tele-mentoring program compared to two groups of Ontario family physicians who did not attend the program. We conducted a retrospective cohort study with two control groups: a matched cohort, and a random sample of 3000 family physicians in Ontario. Each physician was followed from one year before the program, which is the index date, and one year after. We examined the number and proportion of patients on any opioid, on high dose opioids, and the average daily morphine equivalent doses prescribed to each patient. We included 24 physicians who participated in the program (2760 patients), 96 matched physicians (11,117 patients) and 3000 random family doctors (374,174 patients). We found that, at baseline, the tele-mentoring group had similar number of patients on any opioid, but more patients on high dose opioids than both control groups. There was no change in the number of patients on any opioid before and after the index date, but there was a significant reduction in high-dose opioid prescriptions in the extension for community healthcare outcomes (ECHO) group, compared to a non-significant increase in the matched cohort, and a non-significant reduction in the Ontario group during the same comparable periods. Participation in the program was associated with a greater reduction in high-dose opioid prescribing.

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