A dataset of transcriptomic effects of camptothecin treatment on early zebrafish embryos.

Zebrafish () are a good model for cancer research including studies on chemotherapy treatments. We treated wild-type and deletion mutant zebrafish embryos at 24 h post-fertilization with 1 µM of the topoisomerase I inhibitor, camptothecin (CPT), for 4 h to catalogue gene expression changes induced by this DNA damage treatment and to understand if these changes are influenced by loss of miR-34a. The 4 sample groups of 3 independent biological samples consisting of 30 embryos each were analyzed by RNA-sequencing using the recently updated zebrafish transcriptome annotation based on GRCz11, which enabled a more complete and sensitive read mapping and gene assignment than standard annotations.

Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish.

Mutations in the DNAJC21 gene were recently described in Shwachman-Diamond syndrome (SDS), a bone marrow failure syndrome with high predisposition for myeloid malignancies. To study the underlying biology in hematopoiesis regulation and disease, we generated the first in vivo model of Dnajc21 deficiency using the zebrafish. Zebrafish dnajc21 mutants phenocopy key SDS patient phenotypes such as cytopenia, reduced growth, and defective protein synthesis.

miR-34a is a tumor suppressor in zebrafish and its expression levels impact metabolism, hematopoiesis and DNA damage.

Li-Fraumeni syndrome is caused by inherited TP53 tumor suppressor gene mutations. MicroRNA miR-34a is a p53 target and modifier gene. Interestingly, miR-34 triple-null mice exhibit normal p53 responses and no overt cancer development, but the lack of miR-34 promotes tumorigenesis in cancer-susceptible backgrounds.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system.

Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome.

The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes.

CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous system (ANS). Individuals with CHARGE syndrome are frequently born with anomalies requiring multiple surgeries and often experience adverse events post-anesthesia, including oxygen desaturations, decreased respiratory rates, and heart rate abnormalities.

Loss of in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity.

Limb-Girdle Muscular Dystrophy Type R1 (LGMDR1; formerly LGMD2A), characterized by progressive hip and shoulder muscle weakness, is caused by mutations in . In zebrafish, mediates Def-dependent degradation of p53 in the liver and intestines. We show that is expressed in the muscle.

Applicants with Prior Training.

Emergency medicine (EM) has its challenges, downsides, advantages, and accompanying lifestyle. Additionally, graduates of EM residency programs have abundant job opportunities. Accordingly, there is an increased interest in residency training in EM, even among residents with prior training.

High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping.

Zebrafish (Danio rerio) possess orthologues for 84% of the genes known to be associated with human diseases. In addition, these animals have a short generation time, are easy to handle, display a high reproductive rate, low cost, and are easily amenable to genetic manipulations by microinjection of DNA in embryos. Recent advances in gene editing tools are enabling precise introduction of mutations and transgenes in zebrafish.

Ability of emergency ultrasonography to detect pediatric skull fractures: a prospective, observational study.

Background: Blunt head trauma is a common reason for medical evaluation in the pediatric Emergency Department (ED). The diagnostic work-up for skull fracture, as well as for traumatic brain injury, often involves computed tomography (CT) scanning, which may require sedation and exposes children to often-unnecessary ionizing radiation.

Objectives: Our objective was to determine if bedside ED ultrasound is an accurate diagnostic tool for identifying skull fractures when compared to head CT.

The impact of implementing the single provider model of emergency medicine in a paediatric hospital: a retrospective cohort analysis.

Study Objective: The Meyer Pediatric Hospital in Florence, Italy recently implemented the single provider model of emergency medicine. Prior to these changes, patients were triaged to a paediatric surgeon or paediatrician based on the complaint. The authors assess the outcomes of patients evaluated by surgeons prior to this change and compare them with those of patients seen by emergency physicians.

Developing a pediatric trauma system in Tuscany, Italy: a case study in transformative change.

Background: Trauma is the leading cause of death and disability in Italy among patients aged between 1 year and 19 years. To transform its fragmented regional pediatric trauma system to a more organized and efficient spoke and hub model, Tuscany has developed a partnership with physicians from the United States to facilitate the process and to implement a series of strategic system changes to create the first pediatric trauma center in Italy.

Methods: After establishing a multidisciplinary and institutional task force, a rigorous needs assessment was conducted to evaluate resources and develop a strategic timeline with specific project goals.

Assessing the sustainability of hand hygiene adherence prior to patient contact in the emergency department: A 1-year postintervention evaluation.

Background: Health care-associated infection is one of the most important patient safety problems in the world. While many methods exist to prevent health care-associated infection, most experts believe that improving hand hygiene is paramount. We previously published the results of a successful before-and-after hand hygiene interventional study performed in the pediatric emergency department of the Meyer Hospital in Florence, Italy.

The use of point-of-care bedside lung ultrasound significantly reduces the number of radiographs and computed tomography scans in critically ill patients.

Background: Chest radiography has been reported to have low diagnostic accuracy in critically ill intensive care unit (ICU) patients, and chest computed tomography (CT) scans require patients to be transported out of the ICU, putting them at risk of adverse events. In this study we assessed the efficacy of routine bedside lung ultrasound (LUS) in the evaluation of pleural effusions (PE) in the ICU.

Methods: Three hundred seventy-six patients admitted to the ICU for major trauma (46.

Cervical spine injuries in children, part I: mechanism of injury, clinical presentation, and imaging.

Background: Cervical spine injuries are difficult to diagnose in children. They tend to occur in different locations than in adults, and they are more difficult to identify based on history or physical examination. As a result, children are often subjected to radiographic examinations to rule out cervical spine injury.

Learner perception of oral and written examinations in an international medical training program.

Background: There are an increasing number of training programs in emergency medicine involving different countries or cultures. Many examination types, both oral and written, have been validated as useful assessment tools around the world; but learner perception of their use in the setting of cross-cultural training programs has not been described.

Aims: The goal of this study was to evaluate learner perception of four common examination methods in an international educational curriculum in emergency medicine.

Vacuum-assisted closure device enhances recovery of critically ill patients following emergency surgical procedures.

Introduction: Critically ill surgical patients frequently develop intra-abdominal hypertension (IAH) leading to abdominal compartment syndrome (ACS) with subsequent high mortality. We compared two temporary abdominal closure systems (Bogota bag and vacuum-assisted closure (VAC) device) in intra-abdominal pressure (IAP) control.

Methods: This prospective study with a historical control included 66 patients admitted to a medical and surgical intensive care unit (ICU) of a tertiary care referral center (Careggi Hospital, Florence, Italy) from January 2006 to April 2009.

A qualification course in an international emergency medicine intervention.

Background: The Tuscan Emergency Medicine Initiative is a comprehensive training program for physicians designed to create a lasting infrastructure for training in emergency medicine (EM) in a region of Italy. A "Train-the-Trainers" model was utilized to prepare physicians who were working in the emergency department (ED) to become the teachers of EM, and a master's program was created to train the next generation of emergency physicians as well as to put in place a structure into which residency training in EM will be placed. This model has been used in other projects as well; however, the dilemma of what to do with physicians who are already in practice remained an unsolved problem.

Mortality after emergency department intubation.

Introduction: The purpose of this study is to identify the rate of emergency department (ED) intubation and the mortality associated with ED intubation.

Methods: We conducted a retrospective chart review of all patients intubated in the ED between 1 January 2004 and 31 December 2004 at an urban level one trauma centre with approximately 50,000 ED visits annually. All ED intubations were identified and reviewed.

Intubation practice patterns in Tuscan emergency departments.

Introduction: Intubation is one of the most important life-saving procedures performed by emergency physicians (EPs). There is variation in practice when different countries are compared.

Methods: A written questionnaire on intubation practices was administered to a group of Italian doctors practicing in Tuscany during the examination period of a year-long course in emergency medicine.