RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM.

Mobile Simulation Unit: taking simulation to the surgical trainee.

Background: Simulation-based training has become an increasingly accepted part of surgical training. However, simulators are still not widely available to surgical trainees. Some factors that hinder the widespread implementation of simulation-based training are the lack of standardized methods and equipment, costs and time constraints.

Nontechnical skills training for the operating room: A prospective study using simulation and didactic workshop.

Background: The best surgeons demonstrate skills beyond those required for the performance of technically competent surgery. These skills are described under the term nontechnical skills. Failure in these domains has been associated with adverse events inside the operating room.

What are the demographic predictors in laparoscopic simulator performance?

Background: Simulation is playing an increasingly important role in surgical education. There are a number of laparoscopic simulators of which the design and tasks vary considerably. It is unknown if any particular type may result in better outcomes for a specific population.

Laparoscopic skills maintenance: a randomized trial of virtual reality and box trainer simulators.

Objective: A number of simulators have been developed to teach surgical trainees the basic skills required to effectively perform laparoscopic surgery; however, consideration needs to be given to how well the skills taught by these simulators are maintained over time. This study compared the maintenance of laparoscopic skills learned using box trainer and virtual reality simulators.

Design: Participants were randomly allocated to be trained and assessed using either the Society of American Gastrointestinal Endoscopic Surgeons Fundamentals of Laparoscopic Surgery (FLS) simulator or the Surgical Science virtual reality simulator.

Multidisciplinary team simulation for the operating theatre: a review of the literature.

Introduction: Analyses of adverse events inside the operating theatre has demonstrated that many errors are caused by failure in non-technical skills and teamwork. While simulation has been used successfully for teaching and improving technical skills, more recently, multidisciplinary simulation has been used for training team skills. We hypothesized that this type of training is feasible and improves team skills in the operating theatre.

Laparoscopic skills acquisition: a study of simulation and traditional training.

Background: Training in basic laparoscopic skills can be undertaken using traditional methods, where trainees are educated by experienced surgeons through a process of graduated responsibility or by simulation-based training. This study aimed to assess whether simulation trained individuals reach the same level of proficiency in basic laparoscopic skills as traditional trained participants when assessed in a simulated environment.

Methods: A prospective study was undertaken.

The efficacy of laparoscopic skills training in a Mobile Simulation Unit compared with a fixed site: a comparative study.

Background: Laparoscopic skills development via simulation-based medical education programs has gained support in recent years. However, the impact of training site type on skills acquisition has not been examined. The objective of this research was to determine whether laparoscopic skills training outcomes differ as a result of training in a Mobile Simulation Unit (MSU) compared with fixed simulation laboratories.

Effect of fatigue on laparoscopic skills: a comparative historical cohort study.

Background: Fatigue has been shown to have a negative impact on surgical performance. However, there is a lack of research investigating its effect on laparoscopy, particularly in Australia. This study investigated whether fatigue associated with a surgeon's usual workday led to a measurable drop off in laparoscopic surgical skills as assessed on a laparoscopic simulator.

A randomized crossover trial examining low- versus high-fidelity simulation in basic laparoscopic skills training.

Background: Previous randomized studies have compared high- versus low-fidelity laparoscopic simulators; however, no proficiency criteria were defined and results have been mixed. The purpose of this research was to determine whether there were any differences in the learning outcomes of participants who had trained to proficiency on low- or high-fidelity laparoscopic surgical simulators.

Methods: We conducted a randomized, prospective crossover trial with participants recruited from New South Wales, Western Australia, and South Australia.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.

Methionine-dependence phenotype in the de novo pathway in BRCA1 and BRCA2 mutation carriers with and without breast cancer.

Methionine-dependence phenotype (MDP) refers to the reduced ability of cells to proliferate when methionine is restricted and/or replaced by its immediate precursor homocysteine. MDP is a characteristic of human tumors in vivo, human tumor cell lines, and normal somatic tissue in some individuals. It was hypothesized that MDP is a risk factor for developing breast cancer in BRCA (BRCA1 and BRCA2) germline mutation carriers.

Lymphocytes of BRCA1 and BRCA2 germ-line mutation carriers, with or without breast cancer, are not abnormally sensitive to the chromosome damaging effect of moderate folate deficiency.

Mutations in BRCA1 and BRCA2 genes may cause defective DNA repair and increase the risk for breast cancer. Folate deficiency is associated with increased breast cancer risk and induces chromosome abnormalities. We hypothesized that BRCA1 and BRCA2 germline mutation carriers are more sensitive to the genome damaging effect of folate deficiency compared with healthy non-carrier controls and that this sensitivity is further increased in those carriers who develop breast cancer.

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dysmorphic features and/or malformations in the absence of a recognizable syndrome (197). All had normal karyotypes at the 550-850 band level.