7 research outputs found

    An Adult with a Remnant Urachus Anomaly Diagnosed in the Emergency Department.

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    The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent pulling sensation in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In addition, chronic inflammation can lead to neoplastic transformation (adenocarcinoma). Urachal remnant infections can be considered in adults with umbilical purulent drainage. We propose that the pulling sensation described may be a clue to the diagnosis in some patients in which the urachal remnant is attached to the bladder and that the sensation was due to the mechanical connection between the bladder and the umbilicus. The sensation resolved postremoval status of the remnant. This does not appear to have been previously proposed in the literature

    Zoom Fatigue: Case Presentation and Brief Review

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    In this review, we discuss the phenomenon of what has been called Zoom Fatigue—a sense of fatigue as well as physical and emotional stress that can be associated with teleconferencing (especially long teleconferences with minimal breaks). The Zoom Fatigue Scale is discussed as well as various theories to explain the phenomenon. Some preventive strategies are discussed

    Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

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    BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. The yield of combined molecular autopsy and clinical evaluation in 82 surviving families was evaluated. A gene-level rare variant association analysis was conducted in SADS cases versus controls. RESULTS: A clinically actionable pathogenic or likely pathogenic variant was identified in 40 of 302 cases (13%). The main etiologies established were catecholaminergic polymorphic ventricular tachycardia and long QT syndrome (17 [6%] and 11 [4%], respectively). Gene-based rare variants association analysis showed enrichment of rare predicted deleterious variants in RYR2 (p = 5 × 10(-5)). Combining molecular autopsy with clinical evaluation in surviving families increased diagnostic yield from 26% to 39%. CONCLUSIONS: Molecular autopsy for electrical disorder and cardiomyopathy genes, using ACMG guidelines for variant classification, identified a modest but realistic yield in SADS. Our data highlighted the predominant role of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome, especially the RYR2 gene, as well as the minimal yield from other genes. Furthermore, we showed the enhanced utility of combined clinical and genetic evaluation

    Ingested Foreign Body Migration to the Liver: An Unusual Cause of Persistent Abdominal Pain in a 54-Year-Old Female

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    Abdominal pain is a common presentation in emergency medicine. We describe the case of a 54-year-old female who presented to the emergency department due to worsening abdominal pain. She had a history of right upper quadrant (RUQ) abdominal pain that had been ongoing for several months. The pain had been thought by the primary care team to be related to gastritis and she had been prescribed a proton pump inhibitor (PPI). Her abdominal pain increased in the three days prior to her presentation to the emergency department (ED). The computed tomography (CT) scan of the abdomen showed a foreign body (FB) in the liver which was successfully removed surgically. Pathology results showed that the FB was consistent with a small bone fragment. Ingestions of FB are common but seldom result in complications. When complications do arise, perforation of a hollow viscous is typically seen. Rarely, transmigration of the FB can occur

    Limb Pain as Unusual Presentation of a Parietal Intraparenchymal Bleeding Associated with Crack Cocaine Use: A Case Report

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    Limb pain as a presenting feature of an ischemic or hemorrhagic stroke is extremely rare. Here we present a case of a 65-year-old male with complaints of left arm pain and allodynia (specifically light touch to any part of the left arm produced significant discomfort) who was found to have a right parietal lobe intraparenchymal bleed after smoking crack cocaine. Acute central pain is mainly associated with parietal, thalamic, and brainstem lesions. It has been proposed that acute limb pain from a parietal lobe stroke is due to the disconnection of the parietal cortex from the thalamus secondary to the interruption of the pathways between the hemisphere and thalamus/basal ganglia

    An Adult with a Remnant Urachus Anomaly Diagnosed in the Emergency Department

    Get PDF
    The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent “pulling sensation” in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In addition, chronic inflammation can lead to neoplastic transformation (adenocarcinoma). Urachal remnant infections can be considered in adults with umbilical purulent drainage. We propose that the “pulling sensation” described may be a clue to the diagnosis in some patients in which the urachal remnant is attached to the bladder and that the sensation was due to the mechanical connection between the bladder and the umbilicus. The sensation resolved postremoval status of the remnant. This does not appear to have been previously proposed in the literature

    A Case Report on VT from TV: DVT and PE from Prolonged Television Watching

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    Pulmonary embolus (PE) and deep vein thrombosis are diagnoses that are commonly made in the emergency department. Well known risk factors for thromboembolic events include immobility, malignancy, pregnancy, surgery, and acquired or inherited thrombophilias, obesity, cigarette smoking, and hypertension. We present a case of a 59-year-old female who watched TV and developed leg swelling and was found to have PE and DVT
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