RESUMEN
Background: Morning Report (MR) is a ubiquitous traditional educational activity in internal medicine residency training. It is under-researched; hence, this study was conducted. It aimed to examine the practice of MR by internal medicine residents, their motivation to engage with it, and their perception of its contribution to education. Methods: This was a multi-center cross-sectional study. The data was collected using an online self-administered 12-item questionnaire that covered MR practice, respondents' motivation for participation, MR contribution to education, and its impact on the practice of evidence-based medicine and quality improvement and patient safety. Results: One hundred seventy residents returned the online questionnaire (54.7%). The respondents' gender and year of training were balanced (P > 0.05). The most common MR frequency and duration were five days per week (85.4%) and 45-60 minutes (47.1%), respectively. The most common format was handover combined with an emergency long case presentation (55.8%), and consultants were the most common facilitators (79.7%). The respondents' motivation to engage with MR was predominantly intermediate. The top reasons for attending and not attending MR were mandatory attendance and embarrassing questions, respectively. The perceived MR contribution to residents' different roles development was predominantly intermediate; however, it was predominantly very low/low (42%) for overall education. The perceived MR impact on the practice of EBM and QIPS were both predominantly intermediate. Conclusion: MR was found to be a commonly practiced educational activity in internal medicine residency training programs in the eastern province of Saudi Arabia. The case discussion was the core format for education. The respondents' motivation to participate in MR and their perception of its contribution to education was predominantly intermediate. To our best knowledge, this is the first study in Saudi Arabia that examined MR. We hope its findings will be taken for further MR studies and actions for improvement.
RESUMEN
A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed "molar tooth sign." The clinical picture was consistent with Joubert syndrome (JS). Two of her siblings were subsequently found to have a similar condition. Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification. No genetic defect was discerned. However, applying the emerging "Next-Generation Sequencing (NGS)" method, we identified a novel c.5704G>T mutation in exon 41 of the CEP290 gene on chromosome 12q21. The identification of this novel mutation, that is, highly likely to be pathogenic was compatible with the diagnosis of JS. This mutation may be included in screening and diagnostic panel. NGS provides an excellent screening method for genetic testing.
Asunto(s)
Anomalías Múltiples/genética , Antígenos de Neoplasias/genética , Proteínas de Ciclo Celular/genética , Cerebelo/anomalías , Proteínas del Citoesqueleto/genética , Análisis Mutacional de ADN/métodos , Anomalías del Ojo/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Enfermedades Renales Quísticas/genética , Mutación , Retina/anomalías , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/terapia , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/terapia , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/terapia , Fenotipo , Valor Predictivo de las Pruebas , Pronóstico , Factores de Riesgo , Arabia Saudita , Adulto JovenRESUMEN
Cholesterol crystal emboli (CCE) syndrome involving native kidneys is an underdiagnosed condition. CCE is rare in renal allografts. It may present with acute kidney injury, but usually not acute graft loss. CCE should be considered in patients with a history of atherosclerosis and an invasive arterial procedure who present with acute or chronic renal allograft dysfunction. Therapy for CCE is mainly supportive and carries a high rate of mortality. To the best of our knowledge, this is the first reported case of a patient who lost his native kidneys and renal allograft due to CCE arising from his own vasculature.