Close yet so far away: a look into the management strategies of genetic imprinting disorders.

Genetic imprinting is the process of epigenetic labelling or silencing of particular genes, based on the maternal or paternal origin of the gene, in a heritable pattern. The incidence of imprinting disorders has become a growing concern due to the potential association between these congenital syndromes and assisted reproductive technologies (ARTs). This review presents a general summary of the imprinting process as well as the current knowledge surrounding the genetic and epigenetic underpinnings of the most prevalent imprinting disorders: Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome (SRS), Prader-Willi syndrome (PWS), and Angelman syndrome (AS).

Minimally Invasive Intragastric Approach to Gastroesophageal Junction Disease.

Background: A minimally invasive intragastric approach to the gastroesophageal junction (GEJ) allows resection of intramural disease while avoiding disruption of the lower esophageal sphincter and vagus nerves. Few surgeons use this approach; thus little is known regarding its indications, feasibility, technical aspects, complication profile, and long-term outcomes. This study reviewed the experience with this technique.

Emergency Department Computed Tomography Use for Non-traumatic Abdominal Pain: Minimal Variability.

Introduction: Variability in the use of computed tomography (CT) between providers in the emergency department (ED) suggests that CT is ordered on a provider rather than a patient level. We aimed to evaluate the variability of CT ordering practices for non-traumatic abdominal pain (NTAP) across physicians in the ED using patient-visit and physician-level factors.

Methods: We conducted a retrospective study among 6,409 ED visits for NTAP from January 1 to December 31, 2012, at a large, urban, academic, tertiary-care hospital.

Perinatal findings in a patient with a novel large chromosome 19p deletion.

We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid diagnosis, accurate prognosis and to decrease the likelihood of complications.

Penile squamous cell carcinoma with urethral extension treated with Mohs micrographic surgery.

Penile squamous cell carcinoma (SCC) with considerable urethral extension is uncommon and difficult to manage. It often is resistant to less invasive and nonsurgical treatments and frequently results in partial or total penectomy, which can lead to cosmetic disfigurement, functional issues, and psychological distress. We report a case of penile SCC in situ with considerable urethral extension with a focus of cells suspicious for moderately well-differentiated and invasive SCC that was treated with Mohs micrographic surgery (MMS).

Patient characteristics in variable left ventricular recovery from Takotsubo syndrome.

Background: Takotsubo syndrome (TTS) is a heart failure syndrome which is usually reversible. Factors associated with degree of recovery of left ventricular systolic function in TTS are poorly understood.

Materials And Methods: We conducted a retrospective analysis of 90 TTS patients treated at our institution from 2006 to 2014.

Gerbil bite anaphylaxis.

Household pets are well known to cause allergic symptoms in susceptible individuals, most commonly conjunctivitis, rhinitis, bronchospasm or urticaria. The increasing prevalence of exotic pets, including rodents, may introduce novel allergens into the household setting. We describe the case of a 16-year-old female who presented to the emergency department (ED) with an immediate systemic reaction consistent with anaphylaxis following a bite injury from a pet Mongolian gerbil.

Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy.

The mastocytoses comprise a group of proliferative stem cell disorders defined by the abnormal accumulation of mast cells (MCs) in the skin or other body tissues including the bone marrow, gastrointestinal tract, and liver. Systemic mastocytosis is defined by the presence of one major and one minor criterion or 3 minor criteria delineated by the World Health Organization (WHO). We present the case of a 57-year-old woman with a 10-year history of red-brown pruritic maculopapular lesions on the upper and lower extremities and trunk who was originally diagnosed with cutaneous mastocytosis.

An Analysis of the Top-cited Articles in Emergency Medicine Education Literature.

Introduction: Dissemination of educational research is critical to improving medical education, promotion of faculty and ultimately patient care. The objective of this study was to identify the top 25 cited education articles in the emergency medicine (EM) literature and the top 25 cited EM education articles in all journals, as well as report on the characteristics of the articles.

Methods: Two searches were conducted in the Web of Science in June 2016 using a list of education-related search terms.

Primary intramedullary spinal cord lymphoma: a population-based study.

Background: Primary intramedullary spinal cord lymphoma (PISCL) is a rare diagnosis with poorly understood disease progression. Clarification of the factors associated with survival in PISCL patients is warranted.

Methods: We conducted a population-based cohort study utilizing prospectively collected data from the Surveillance, Epidemiology, and End Results (SEER) database.

Lack of evidence of lower 30-day all-cause readmission in Medicare beneficiaries with heart failure and reduced ejection fraction discharged on spironolactone.

Background: Therapy with evidence-based heart failure (HF) medications has been shown to be associated with lower risk of 30-day all-cause readmission in patients with HF and reduced ejection fraction (HFrEF).

Methods: We examined the association of aldosterone antagonist use with 30-day all-cause readmission in this population. Of the 2443 Medicare beneficiaries with HF and left ventricular EF ≤35% discharged home from 106 Alabama hospitals during 1998-2001, 2060 were eligible for spironolactone therapy (serum creatinine ≤2.

The Standardized Letter of Evaluation for Postgraduate Training: A Concept Whose Time Has Come?

A medical student's letter of recommendation for postgraduate training applications should provide a fair and accurate assessment of academic and clinical performance, as well as define character attributes pertinent to the practice of medicine. Since its inception in 1997, the emergency medicine (EM) standardized letter of evaluation (SLOE) has evolved into an instrument that provides just such an assessment. Concise, standardized, and discriminating in its assessment of performance relevant to the practice of EM, the SLOE is judged by program directors in EM as the most valuable component of a potential resident's application.

Association of 30-Day All-Cause Readmission with Long-Term Outcomes in Hospitalized Older Medicare Beneficiaries with Heart Failure.

Background: Heart failure is the leading cause for 30-day all-cause readmission. We examined the impact of 30-day all-cause readmission on long-term outcomes and cost in a propensity score-matched study of hospitalized patients with heart failure.

Methods: Of the 7578 Medicare beneficiaries discharged with a primary diagnosis of heart failure from 106 Alabama hospitals (1998-2001) and alive at 30 days after discharge, 1519 had a 30-day all-cause readmission.

Treatment of Head and Neck Injuries in the Helmeted Athlete.

Sport-related concussion treatment includes three major phases: initial evaluation at the time of the injury, treatment while the patient is symptomatic, and evaluation of the readiness for a gradual return to participation. Each concussion evaluation should include similar elements: assessment of symptoms, assessment of cognitive ability, assessment of coordination (of the eyes, upper extremities, and lower extremities), and assessment for additional injuries. The spine-boarding recommendations from the American College of Emergency Physicians, National Association of EMS Physicians, and National Athletic Trainers' Association have changed.

Do Emergency Medicine Residency Graduates Feel Prepared to Manage Closed Fractures After Training?

Objectives: Fractures comprise 3% of all emergency department (ED) visits. Although emergency physicians are often responsible for managing most of the initial care of these patients, many report a lack of proficiency and comfort with these skills. The primary objective was to assess how prepared recent emergency medicine (EM) residency graduates felt managing closed fractures upon completion of residency.

Are Patients with Psychogenic Movement Disorders More Likely to be Healthcare Workers?

Background: Reported risk factors for the development of a psychogenic movement disorder (PMD) include young age, female gender, history of abuse, current or past psychiatric disorder, lower levels of education and socioeconomic status, and employment as a healthcare worker. Although employment in healthcare is included in several diagnostic criteria for PMD, as well as in many case series, this association has never been validated.

Methods: Using the University of Maryland Movement Disorder Database (UMMDD), we identified PMD cases, as well as patients with isolated focal dystonia as controls.

A Novel Specialty-Specific, Collaborative Faculty Development Opportunity in Education Research: Program Evaluation at Five Years.

Purpose: For the busy clinician-educator, accessing opportunities that develop the skills and knowledge necessary to perform education research can be problematic. The Medical Education Research Certification at Council of Emergency Medicine Residency Directors (MERC at CORD) Scholars' Program is a potential alternative. The current study evaluates the program's outcomes after five years.