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Atopic dermatitis (AD) is a pervasive and multifaceted dermatological disorder causing daily distress to afflicted individuals worldwide. This comprehensive review synthesizes the historical and contemporary advancements in therapeutic strategies, offering a critical analysis of their efficacy, safety profiles, and adaptability. The enduring role of topical corticosteroids in managing AD is examined, acknowledging their potent anti-inflammatory properties alongside their potential adverse side effects, particularly in extended usage. The article explores the utilization of topical calcineurin inhibitors like tacrolimus and pimecrolimus, highlighting their novel anti-inflammatory pathways while also scrutinizing concerns over potential malignancies that relegate them to second-line therapy. The present investigation features the emergence of crisaborole, a phosphodiesterase four inhibitor. Its innovative mode of action, benign safety profile, and applicability to mild and moderate AD are thoroughly evaluated. The review also includes challenges, particularly cost considerations, which constrain accessibility and necessitate nuanced implementation in therapeutic regimens. This study underscores the need for persistent investigation, teamwork, and innovations in managing AD. In this regard, AD requires a united approach between clinicians, researchers, affected individuals, and policymakers to refine patient-focused treatment and develop precise, economical strategies to address this chronic and frequently life-altering health condition.
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Duchenne muscular dystrophy (DMD) is one of the most prevalent X-linked inherited neuromuscular disorders, with an estimated incidence between 1 in 3500 and 5000 live male births. The median life expectancy at birth is around 30 years due to a rapid and severe disease progression. Currently, there is no cure for DMD, and the standard of care is mainly palliative therapy and glucocorticoids to mitigate symptoms and improve quality of life. Recent advances in phosphorodiamidate morpholino antisense oligonucleotide (PMO) technology has proven optimistic in providing a disease-modifying therapy rather than a palliative treatment option through correcting the primary genetic defect of DMD by exon skipping. However, as a result of the high variance in mutations of the dystrophin gene causing DMD, it has been challenging to tailor an effective therapy in most patients. Viltolarsen is effective in 8% of patients and accurately skips exon 53, reestablishing the reading frame and producing a functional form of dystrophin and milder disease phenotype. Results of recently concluded preclinical and clinical trials show significantly increased dystrophin protein expression, no severe adverse effects, and stabilization of motor function. In summary, viltolarsen has provided hope for those working toward giving patients a safe and viable treatment option for managing DMD. This review summarizes an overview of the presentation, pathophysiology, genetics, and current treatment guidelines of DMD, pharmacological profile of viltolarsen, and a summary of the safety and efficacy with additional insights using recent clinical trial data.
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Distrofia Muscular de Duchenne , Recién Nacido , Humanos , Masculino , Distrofia Muscular de Duchenne/tratamiento farmacológico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/metabolismo , Distrofina/genética , Distrofina/metabolismo , Calidad de Vida , Oligonucleótidos/uso terapéuticoRESUMEN
Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.
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Cardiomiopatías , Cardiomiopatía Dilatada , Defectos del Tabique Interventricular , Humanos , Cardiomiopatía Dilatada/genética , Placofilinas/genética , Cardiomiopatías/genética , HomocigotoRESUMEN
We report the case of a 13-year-old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate-corrected QT interval with imaging showing significant left ventricular dysfunction. Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy-primary carnitine deficiency (PCD) caused by a homozygous mutation in the SLC22A5 gene, leading to an in-frame deletion mutation (NP_003051.1:p.Phe23del) affecting the organic cation transporter 2 (OCTN2) protein. Following the treatment with oral carnitine supplementation, her QT interval returned to within the normal range with significant improvement in left ventricular function.
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Arritmias Cardíacas , Cardiomiopatías , Carnitina/deficiencia , Hiperamonemia , Enfermedades Musculares , Proteínas de Transporte de Catión Orgánico , Femenino , Humanos , Adolescente , Proteínas de Transporte de Catión Orgánico/genética , Miembro 5 de la Familia 22 de Transportadores de Solutos/genética , Electrocardiografía , Cardiomiopatías/complicaciones , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatías/genética , Mutación , Carnitina/uso terapéutico , Carnitina/genética , SíndromeRESUMEN
Demand for joint arthroplasty surgery in the UK has increased significantly over the past 10 years. Advanced clinical practitioner (ACP) roles in arthroplasty care, typically fulfilled by expert nurses or physiotherapists, have been developed to alleviate service pressures and facilitate care for the growing number of patients undergoing arthroplasty surgery. There are numerous different models of ACP-led services both in the UK and internationally, driven by local service and population needs. ACPs in arthroplasty care will be involved throughout the patient journey, including pre-operative assessment, peri-operative care and long-term surveillance. ACPs in arthroplasty care will develop expertise across all four pillars of advanced clinical practice and have the potential to influence and contribute to the development of guidance and policy for the future of arthroplasty care delivery, ensuring best quality, evidence-based practice is achieved.
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Artroplastia , HumanosRESUMEN
Appropriate use of FRAX reduces the number of people requiring DXA scans, while contemporaneously determining those most at risk. We compared the results of FRAX with and without inclusion of BMD. It suggests clinicians to carefully consider the importance of BMD inclusion in fracture risk estimation or interpretation in individual patients. PURPOSE: FRAX is a widely accepted tool to estimate the 10-year risk of hip and major osteoporotic fracture in adults. Prior calibration studies suggest this works similarly with or without the inclusion of bone mineral density (BMD). The purpose of the study is to compare within-subject differences between FRAX estimations derived using DXA and Web software with and without the inclusion of BMD. METHOD: A convenience cohort was used for this cross-sectional study, consisting of 1254 men and women aged between 40 and 90 years who had a DXA scan and complete validated data available for analysis. FRAX 10-year estimations for hip and major osteoporotic fracture were calculated using DXA software (DXA-FRAX) and the Web tool (Web-FRAX), with and without BMD. Agreements between estimates within each individual subject were examined using Bland-Altman plots. We performed exploratory analyses of the characteristics of those with very discordant results. RESULTS: Overall median DXA-FRAX and Web-FRAX 10-year hip and major osteoporotic fracture risk estimations which include BMD are very similar: 2.9% vs. 2.8% and 11.0% vs. 11% respectively. However, both are significantly lower than those obtained without BMD: 4.9% and 14% respectively, P < 0.001. Within-subject differences between hip fracture estimates with and without BMD were < 3% in 57% of cases, between 3 and 6% in 19% of cases, and > 6% in 24% of cases, while for major osteoporotic fractures such differences are < 10% in 82% of cases, between 10 and 20% in 15% of cases, and > 20% in 3% of cases. CONCLUSIONS: Although there is excellent agreement between the Web-FRAX and DXA-FRAX tools when BMD is incorporated, sometimes there are very large differences for individuals between results obtained with and without BMD. Clinicians should carefully consider the importance of BMD inclusion in FRAX estimations when assessing individual patients.
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Fracturas Osteoporóticas , Adulto , Masculino , Humanos , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Absorciometría de Fotón , Fracturas Osteoporóticas/diagnóstico por imagen , Fracturas Osteoporóticas/epidemiología , Estudios Transversales , Irlanda , Medición de Riesgo/métodos , Densidad Ósea , Factores de RiesgoRESUMEN
Pathogenic variants in ACTA2, encoding smooth muscle α-actin, predispose to thoracic aortic aneurysms and dissections. ACTA2 variants altering arginine 179 predispose to a more severe, multisystemic disease termed smooth muscle dysfunction syndrome (SMDS; OMIM 613834). Vascular complications of SMDS include patent ductus arteriosus (PDA) or aortopulmonary window, early-onset thoracic aortic disease (TAD), moyamoya-like cerebrovascular disease, and primary pulmonary hypertension. Patients also have dysfunction of other smooth muscle-dependent systems, including congenital mydriasis, hypotonic bladder, and gut hypoperistalsis. Here, we describe five patients with novel heterozygous ACTA2 missense variants, p.Arg179Gly, p.Met46Arg, p.Thr204Ile, p.Arg39Cys, and p.Ile66Asn, who have clinical complications that align or overlap with SMDS. Patients with the ACTA2 p.Arg179Gly and p.Thr204Ile variants display classic features of SMDS. The patient with the ACTA2 p.Met46Arg variant exhibits exclusively vascular complications of SMDS, including early-onset TAD, PDA, and moyamoya-like cerebrovascular disease. The patient with the ACTA2 p.Ile66Asn variant has an unusual vascular complication, a large fusiform internal carotid artery aneurysm. The patient with the ACTA2 p.Arg39Cys variant has pulmonary, gastrointestinal, and genitourinary complications of SMDS but no vascular manifestations. Identifying pathogenic ACTA2 variants associated with features of SMDS is critical for aggressive surveillance and management of vascular and nonvascular complications and delineating the molecular pathogenesis of SMDS.
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Actinas , Aneurisma de la Aorta Torácica , Trastornos Cerebrovasculares , Conducto Arterioso Permeable , Enfermedad de Moyamoya , Actinas/genética , Aneurisma de la Aorta Torácica/diagnóstico , Aneurisma de la Aorta Torácica/genética , Conducto Arterioso Permeable/genética , Heterocigoto , Humanos , Enfermedad de Moyamoya/genética , Músculo Liso , Mutación , FenotipoRESUMEN
BACKGROUND: Over recent years, a number of enhanced recovery programs have appeared in first, adult colorectal surgery, and subsequently many other adult surgical specialties. Increasing interest in this approach to perioperative management in children culminated in the recent development of the first enhanced recovery pathway for pediatric intestinal surgery, endorsed by Enhanced Recovery after Surgery Society (ERAS®). In parallel, there has been increasing interest in the refinement of perioperative management of selected pediatric cardiac surgical patients, invariably referred to as "fast track" management. Initiatives have largely focused on duration of postoperative ventilation rather than on a much wider range of perioperative interventions to optimize recovery and ensure timely discharge after surgery. In our institution, a "Level 1" pediatric cardiac surgical center, we assembled a multidisciplinary team to design a comprehensive enhanced recovery pathway, based on ERAS® methodology, for selected cardiac surgical patients. After a lengthy period of planning, staff education, and preparation, we implemented the pathway at the end of November 2019. METHODS: We conducted a prospective audit of the perioperative management and outcomes of the first 88 patients managed according to this enhanced recovery pathway over a 25-month period in our institution. RESULTS: The mean age of the patients was 5.8 years (range 0.5-17.9), and the mean weight was 22.4 kg (range 6.6-57.2). Sixty-eight of the 88 patients were cardiopulmonary bypass cases. A total of 54% of patients received all four defined intraoperative anesthetic interventions (intravenous paracetamol, non-steroidal anti-inflammatory drug, antiemetic if aged more than 4 years, and use of a local anesthetic technique). A total of 89% of patients met the target extubation time of 6 h after administration of protamine. Median postoperative intensive care unit length of stay was 23.5 h (range 15.2-89.5). When compared to a historic control group, this represented a 22% reduction in median intensive care unit stay, although the total hospital length of stay remained unchanged. A total of 83% of patients met the target hospital discharge target of the fifth postoperative day. CONCLUSIONS: These preliminary results suggest that enhanced recovery pathway implementation for selected pediatric cardiac surgical patients is feasible, with acceptable outcomes. They suggest areas for further development and the potential for wider implementation.
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Procedimientos Quirúrgicos Cardíacos , Procedimientos Quirúrgicos del Sistema Digestivo , Adolescente , Adulto , Niño , Preescolar , Humanos , Lactante , Unidades de Cuidados Intensivos , Tiempo de Internación , Alta del Paciente , Complicaciones PosoperatoriasRESUMEN
Osteoporosis is an important global health problem resulting in fragility fractures. The vertebrae are the commonest site of fracture resulting in extreme illness burden, and having the highest associated mortality. International studies show that vertebral fractures (VF) increase in prevalence with age, similarly in men and women, but differ across different regions of the world. Ireland has one of the highest rates of hip fracture in the world but data on vertebral fractures are limited. In this study we examined the prevalence of VF and associated major risk factors, using a sample of subjects who underwent vertebral fracture assessment (VFA) performed on 2 dual-energy X-ray absorptiometry (DXA) machines. A total of 1296 subjects aged 40 years and older had a valid VFA report and DXA information available, including 254 men and 1042 women. Subjects had a mean age of 70 years, 805 (62%) had prior fractures, mean spine T-score was - 1.4 and mean total hip T-scores was - 1.2, while mean FRAX scores were 15.4% and 4.8% for major osteoporotic fracture and hip fracture, respectively. Although 95 (7%) had a known VF prior to scanning, 283 (22%) patients had at least 1 VF on their scan: 161 had 1, 61 had 2, and 61 had 3 or more. The prevalence of VF increased with age from 11.5% in those aged 40-49 years to > 33% among those aged ≥ 80 years. Both men and women with VF had significantly lower BMD at each measured site, and significantly higher FRAX scores, P < 0.01. These data suggest VF are common in high risk populations, particularly older men and women with low BMD, previous fractures, and at high risk of fracture. Urgent attention is needed to examine effective ways to identify those at risk and to reduce the burden of VF.
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Fracturas de Cadera , Fracturas Osteoporóticas , Fracturas de la Columna Vertebral , Absorciometría de Fotón , Adulto , Anciano , Densidad Ósea , Femenino , Fracturas de Cadera/diagnóstico por imagen , Fracturas de Cadera/epidemiología , Humanos , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Fracturas Osteoporóticas/diagnóstico por imagen , Fracturas Osteoporóticas/epidemiología , Factores de Riesgo , Fracturas de la Columna Vertebral/diagnóstico por imagen , Fracturas de la Columna Vertebral/epidemiologíaRESUMEN
INTRODUCTION: The vertebrae are the most common site for osteoporotic fracture. While they can result in disability and increased mortality, only one-third present clinically. People with multiple fractures are at greater risk of future fractures. Most hip fracture patients are neither diagnosed nor treated for their underlying osteoporosis. Computed tomography (CT) studies are often performed on hospitalised patients, can be used to diagnose osteoporosis and are gaining popularity for opportunistic osteoporosis screening by measuring BMD and other bone strength indices. The aim of this study was to assess the prevalence of vertebral fractures on CT pulmonary angiograms (CTPA) in a cohort of hip fracture patients and whether this increased their diagnosis and treatment rates. METHODS: We retrospectively identified all hip fractures admitted to our institution between 2010 and 2017 to identify those who underwent CTPA scans. An independent, blinded consultant musculoskeletal radiologist reviewed the images for vertebral fractures and quantified severity using Genant criteria. Results were compared to the original radiology report, discharge diagnoses and treatment rates for osteoporosis. RESULTS: Eleven percent (225/2122) of patients had CTPA images available. Seventy percent (158) were female with a mean age of 78 years (SD: 11). The median length of stay for all patients was 16 days (1-301). Forty percent (90) of patients had at least one vertebral fracture present and 20% (46) had more than one fracture. Only one in 5 radiology reports noted the fractures. 24% of subjects had osteoporosis treatment recorded at hospital discharge and there was no difference between those with vertebral fractures to those without. CONCLUSION: Many hip fracture patients have undiagnosed spine fractures. A screening strategy which evaluates CT scans for fractures has potential to increase diagnosis and treatment rates of osteoporosis. However, more work is needed to increase awareness.
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Fracturas de Cadera , Fracturas Osteoporóticas , Fracturas de la Columna Vertebral , Anciano , Densidad Ósea , Femenino , Fracturas de Cadera/diagnóstico por imagen , Fracturas de Cadera/epidemiología , Fracturas de Cadera/etiología , Humanos , Vértebras Lumbares/lesiones , Fracturas Osteoporóticas/diagnóstico por imagen , Fracturas Osteoporóticas/epidemiología , Estudios Retrospectivos , Fracturas de la Columna Vertebral/diagnóstico por imagen , Fracturas de la Columna Vertebral/epidemiología , Fracturas de la Columna Vertebral/etiologíaRESUMEN
INTRODUCTION: Vertebral fractures (VF) are the most common osteoporotic fracture. They are associated with significant morbidity and mortality and are an important predictor of future fractures. The epidemiology of VF in Ireland is limited and a greater understanding of their scale and impact is needed. Therefore, we conducted a systematic review of publications on osteoporotic VF in Ireland. METHODS: Systematic searches were conducted using PubMed, Medline, Embase, Scopus and Cochrane electronic databases to identify eligible publications from Ireland addressing osteoporotic VF. RESULTS: Twenty studies met the inclusion criteria out of 1558 citations. All studies were published since 2000. Data was obtained on 182,771 patients with fractures. Nine studies included more than 100 subjects and three included more than 1000. Females accounted for 70% with an overall mean age of 65.2 years (30-94). There was significant heterogeneity in study design, methods and outcome measures including the following: use of administrative claims data on public hospital admissions, surgical and medical interventions, the impact of a fracture liaison service and the osteoporosis economic burden. The prevalence of VF was difficult to ascertain due to definitions used and differences in the study populations. Only two studies systematically reviewed spine imaging using blinded assessors and validated diagnostic criteria to assess the prevalence of fractures in patient cohorts. CONCLUSIONS: Several studies show that VF are common when addressed systematically and the prevalence may be rising. However, there is a deficit of large studies systematically addressing the epidemiology and their importance in Ireland.
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Fracturas Osteoporóticas/epidemiología , Fracturas de la Columna Vertebral/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Costo de Enfermedad , Femenino , Humanos , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , PrevalenciaRESUMEN
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic reciprocal duplication at the ATAD3 locus was identified. Analysis of the breakpoint junction fragment indicated that these 67 kb heterozygous duplications were likely mediated by non-allelic homologous recombination at regions of high sequence identity in ATAD3A exon 11 and ATAD3C exon 7. At the recombinant junction, the duplication allele produces a fusion gene derived from ATAD3A and ATAD3C, the protein product of which lacks key functional residues. Analysis of fibroblasts derived from two affected individuals shows that the fusion gene product is expressed and stable. These cells display perturbed cholesterol and mitochondrial DNA organization similar to that observed for individuals with severe ATAD3A deficiency. We hypothesize that the fusion protein acts through a dominant-negative mechanism to cause this fatal mitochondrial disorder. Our data delineate a molecular diagnosis for this disorder, extend the clinical spectrum associated with structural variation at the ATAD3 locus, and identify a third mutational mechanism for ATAD3 gene cluster variants. These results further affirm structural variant mutagenesis mechanisms in sporadic disease traits, emphasize the importance of copy number analysis in molecular genomic diagnosis, and highlight some of the challenges of detecting and interpreting clinically relevant rare gene rearrangements from next-generation sequencing data.
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ATPasas Asociadas con Actividades Celulares Diversas/genética , Colesterol/metabolismo , Duplicación de Gen , Recombinación Homóloga , Proteínas de la Membrana/genética , Mitocondrias/patología , Enfermedades Mitocondriales/patología , Proteínas Mitocondriales/genética , ATPasas Asociadas con Actividades Celulares Diversas/química , Secuencia de Aminoácidos , Encefalopatías/etiología , Encefalopatías/metabolismo , Encefalopatías/patología , Cardiomiopatías/etiología , Cardiomiopatías/metabolismo , Cardiomiopatías/patología , Opacidad de la Córnea/etiología , Opacidad de la Córnea/metabolismo , Opacidad de la Córnea/patología , Variaciones en el Número de Copia de ADN , Femenino , Reordenamiento Génico , Humanos , Lactante , Recién Nacido , Masculino , Proteínas de la Membrana/química , Mitocondrias/genética , Mitocondrias/metabolismo , Enfermedades Mitocondriales/genética , Enfermedades Mitocondriales/metabolismo , Proteínas Mitocondriales/química , Hipotonía Muscular/etiología , Hipotonía Muscular/metabolismo , Hipotonía Muscular/patología , Mutación , Conformación Proteica , Convulsiones/etiología , Convulsiones/metabolismo , Convulsiones/patología , Homología de SecuenciaRESUMEN
BACKGROUND AND PURPOSE: The aim of this study was to design and evaluate the introduction of a sustainable and feasible structure of placements in general practice for third-year pharmacy students at the University of Sunderland. The national agenda in the United Kingdom (UK) calls for an increased presence of pharmacists within general practice; therefore, development of placements in this is setting is aligned to the development of these new roles. EDUCATIONAL ACTIVITY AND SETTING: The placements were located in general practice surgeries in the North East of England in the UK. Students engaged in activities which introduced them to the structure and function of general practice and familiarise them with the role of pharmacists and other practice staff. Two cohorts undertook the education activity during the development process. The first cohort was comprised of 213 students, with 193 students the following year. FINDINGS: An action research approach was taken to evaluate and revise the design of the placement. The final design and delivery have been shown to have a positive impact on student learning experience, be feasible and sustainable. The placement was also successful at introducing students to potential future roles in general practice for pharmacists. SUMMARY: This model of general practice placement provision was found to be a feasible and sustainable delivery model, which was well received by undergraduate students.
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Educación en Farmacia/métodos , Estudiantes de Farmacia/psicología , Estudios de Cohortes , Educación en Farmacia/tendencias , Inglaterra , Medicina General/educación , Medicina General/métodos , Investigación sobre Servicios de Salud/métodos , Humanos , Medicina Estatal , Estudiantes de Farmacia/estadística & datos numéricos , Encuestas y CuestionariosRESUMEN
BACKGROUND: Participants in voluntary research present a different demographic profile than those who choose not to participate, affecting the generalizability of many studies. Efforts to evaluate these differences have faced challenges, as little information is available from non-participants. Leveraging data from a recent randomized controlled trial that used health administrative databases in a jurisdiction with universal medical coverage, we sought to compare the quality of care provided by participating and non-participating physicians prior to the program's implementation in order to assess whether participating physicians provided a higher baseline quality of care. METHODS: We conducted clustered regression analyses of baseline data from provincial health administrative databases. Participants included all family physicians who were eligible to participate in the Improved Delivery of Cardiovascular Care (IDOCC) project, a quality improvement project rolled out in a geographically defined region in Ontario (Canada) between 2008 and 2011. We assessed 14 performance indicators representing measures of access, continuity, and recommended care for cancer screening and chronic disease management. RESULTS: In unadjusted and patient-adjusted models, patients of IDOCC-participating physicians had higher continuity scores at the provider (Odds Ratio (OR) [95% confidence interval]: 1.06 [1.03-1.09]) and practice (1.06 [1.04-1.08]) level, lower risk of emergency room visits (Rate Ratio (RR): 0.93 [0.88-0.97]) and hospitalizations (RR:0.87 [0.77-0.99]), and were more likely to have received recommended diabetes tests (OR: 1.25 [1.06-1.49]) and cancer screening for cervical cancer (OR: 1.32 [1.08-1.61] and breast cancer (OR: 1.32 [1.19-1.46]) than patients of non-participating physicians. Some indicators remained statistically significant in the model after adjusting for provider factors. CONCLUSIONS: Our study demonstrated a participation bias for several quality indicators. Physician characteristics can explain some of these differences. Other underlying physician or practice attributes also influence interest in participating in quality improvement initiatives and existing quality levels. The standard for addressing participation bias by controlling for basic physician and practice level variables is inadequate for ensuring that results are generalizable to primary care providers and practices.
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Enfermedades Cardiovasculares/terapia , Atención a la Salud/normas , Médicos de Familia , Pautas de la Práctica en Medicina/estadística & datos numéricos , Calidad de la Atención de Salud , Bases de Datos Factuales , Humanos , Ontario , Mejoramiento de la Calidad , Indicadores de Calidad de la Atención de Salud , Ensayos Clínicos Controlados Aleatorios como Asunto , Análisis de Regresión , Cobertura Universal del Seguro de SaludRESUMEN
BACKGROUND: Electronic consultation (eConsult) services are secure online applications facilitating provider-to-provider communication. They have been found to improve access to specialist care. However, little is known about eConsult's impact on family physicians' referral rates to specialty care. The objective of this study was to assess the impact of a multispecialty eConsult service on referral rates from primary care. METHODS: In this parallel-arm, randomized controlled trial, we recruited primary care providers across Ontario not previously enrolled with eConsult. We randomly assigned participants to intervention and control arms. Participants in the intervention arm received access to eConsult for a period of 1 year while those in the control arm received no access to eConsult. The main outcome was specialist referral rate, expressed as the total number of referrals to (1) specialties available through eConsult, and (2) all medical specialties, per 100 patients seen. Multivariable negative binomial regression analysis was used to evaluate the effect of the intervention before and after adjusting for provider characteristics, using health administrative data. RESULTS: One hundred and thirteen participants were randomized (56 to control and 57 to intervention). For the primary outcome (referrals to eConsult specialties), the results show a statistically significant reduction in the number of referrals in both arms (control-arm Rate Ratio (RR), 0.85, 95% CI 0.79 to 0.91; intervention-arm RR, 0.80, 95% CI 0.74 to 0.85; unadjusted and adjusted RR values almost identical), as compared to the baseline data collected during the 12-month period before randomization, with a non-statistically significant 6% greater reduction in referrals in the intervention arm, compared to the control arm (unadjusted RR 0.94, 95% CI 0.85 to 1.03; adjusted RR 0.93, 95% CI 0.85 to 1.03). CONCLUSIONS: Our randomized controlled trial of a multispecialty eConsult service demonstrated inconclusive results in terms of the impact of eConsult on physician referral rates. Findings are discussed in light of important limitations associated with conducting randomized controlled trials (RCTs) of complex interventions in the primary care context with intent to inform the design and analysis of future trials. TRIAL REGISTRATION: Clinicaltrials.gov, ID: NCT02053467 . Registered prospectively on 3 February 2014.
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Derivación y Consulta/estadística & datos numéricos , Consulta Remota , Adulto , Femenino , Accesibilidad a los Servicios de Salud , Humanos , Masculino , Medicina , Persona de Mediana Edad , Médicos de Familia , Atención Primaria de SaludRESUMEN
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Background: The referral-consultation process can be difficult to navigate. Electronic consultations (eConsults) can help streamline referrals by facilitating inter-provider communication. Objective: We evaluated the potential effect of eConsult on specialist referral rates in Ontario among family physicians providing comprehensive care. Methods: We conducted a retrospective 1:3 matched cohort study examining total referrals and referrals to all available medical specialties from primary care providers between 1 April 2014 and 31 March 2015. We used multivariable random effects Poisson regression analysis to compare referral rates between eConsult and non-eConsult users while adjusting for relevant patient and provider characteristics. Referral rates were expressed per physician, per 100 patients and per 100 patient encounters. Results: There were 113197 referrals across all medical specialties made by 119 eConsult physicians and 352 matched controls. Referral rates per physician were significantly lower in the eConsult group for all specialty groupings [unadjusted rate ratio (RR) = 0.87, 95% confidence interval (CI) = 0.80-0.95; adjusted RR = 0.92, 95% CI = 0.85-1.00]. Referral rates per patient were lower among eConsult physicians (unadjusted RR = 0.91, 95% CI = 0.84-0.98) but this difference was not statistically significant after adjustment (adjusted RR = 0.96, 95% CI = 0.90-1.02). No statistically significant difference was observed when referrals were expressed per 100 patient encounters. Conclusion: This is the first Canadian study to examine the potential effect of eConsult on overall referrals at a population level. Our findings demonstrate that using eConsult service is associated with fewer referrals from primary to specialist care, with considerable potential for cost savings to our single-payer system.