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1.
Curr Genomics ; 18(4): 341-359, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29081690

RESUMEN

The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolonic tumours and a higher adenoma/carcinoma ratio, which indicates a slower progression to CRC. Certain characteristics are shared with sporadic CRC, e.g. similarities in gene expression and a high degree of CIN+, with significanly increased 20q gain in FCCTX. Other molecular characteristics of FCCTX include longer telomere length and hypomethylation of LINE-1, both being a possible explanation for CIN+. Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing. Sequencing strategies and subsequent bioinformatics are improving fast. Exome sequencing and whole genome sequencing are currently the most promising tools. Finally, the involvement of CNV's and regulatory sequences are widely unexplored and would be interesting for further investigation in FCCTX.

2.
Simul Healthc ; 18(5): 305-311, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-36730862

RESUMEN

BACKGROUND: Surgical residents need structured and objective feedback to develop their skills and become capable of performing surgical procedures autonomously. A shortage of experienced surgical staff has prompted residents to seek feedback from self-assessment and peer assessments. OBJECTIVES: We investigated whether surgical residents can reliably rate their own and their peers' basic surgical skills using the Global Rating Scale (GRS) from the Objective Structured Assessment of Technical Skills. METHODS: The study was a prospective and descriptive study conducted using gap analysis at the Copenhagen Academy for Medical Education and Simulation (Copenhagen, Denmark) from 2016 to 2017. Surgical residents were recruited during a course in basic open surgical skills. Among 102 course participants, 53 met the inclusion criteria and 22 participated in the study. RESULTS: We recruited surgical residents based in the Capital Region and Zealand Region of Demark, and 42% of eligible residents participated in the study. Surgical residents underestimated their own surgical performance (median, 17 [range, 15-18] vs. 20 [range, 19.75-22]; P < 0.001). They also rated their peers lower than an experienced rater did (median 10 [range, 8.75-14] vs. 15 and median 20.5 [range, 19-22] vs. 23; both P < 0.001). Gap analysis revealed residents had unrecognized strengths (ie, self-underappraisal) in most GRS domains. CONCLUSIONS: Ratings are unreliable when surgical residents assess their own and their peers' performances using GRS. A gap analysis revealed unrecognized strengths in time and motion, instrument handling, knowledge of instruments and sutures, and knowledge of specific procedure as well as unrecognized weaknesses in flow of operation and forward planning.


Asunto(s)
Cirugía General , Internado y Residencia , Humanos , Autoevaluación (Psicología) , Estudios Prospectivos , Competencia Clínica , Cirugía General/educación
3.
Ugeskr Laeger ; 184(50)2022 12 12.
Artículo en Danés | MEDLINE | ID: mdl-36510812

RESUMEN

INTRODUCTION: The use of abbreviations in patient records in Danish hospitals is extensive. The purpose of this study was to investigate the use of abbreviations, how they affect the comprehension, and how much time was saved writing abbreviations. METHODS: The study consisted of four sub-studies. First, a prospective collection of abbreviations from patient records. From these, three sentences were constructed and used in the other three sub-studies: a questionnaire for doctors concerning the use of abbreviations, an evaluation of time used to understand abbreviated versus non-abbreviated sentences, and a theoretical analysis of time saved by reducing the number of written characters. RESULTS: We found several abbreviations with multiple meanings. Writing a sentence with abbreviations saved 20 seconds. Comprehension of an abbreviated sentence took an extra 12-85 seconds. There was no difference in comprehension of abbreviations based on medical experience. Finally, data showed that neurologists' self-rated comprehension of complicated abbreviated sentences was very good. DISCUSSION: Numerous abbreviations were used in Danish patient records, many which could not be looked up. The use of abbreviations in patient records might not live up to the Danish record-keeping order, and we proposed four solutions to overcome the problem: more bureaucracy and administration; embrace and expand use of abbreviations; introduction of artificial intelligence to interpret abbreviations; or usage of speech recognition software in all Danish hospitals. FUNDING: none. TRIAL REGISTRATION: none.


Asunto(s)
Inteligencia Artificial , Médicos , Humanos , Estudios Prospectivos , Registros Médicos , Encuestas y Cuestionarios
4.
Dan Med J ; 65(12)2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30511634

RESUMEN

INTRODUCTION: Fewer open surgical procedures are performed, and thus a need to learn open surgical techniques outside the operating room has emerged. Simulation training offers the possibility to train in a safe environment before operating on patients. The purpose of this study is to evaluate the effect of a simulation-based course in basic open surgical skills and to describe its pedagogical foundation, content and organisation. METHODS: Surgical trainees at the beginning of their surgical career participated in a basic open surgical skills course and were assessed before the course, after the course and during a one-day course operating on live sedated pigs using the Objective Structures Assessment of Technical Skills (OSATS) instrument. RESULTS: We found that the course participants matched the target group. The participants' OSATS score increased from 12.1 in the pre-test to 19.9 points (p < 0.0001) in the post-test. The completion rate was 99% and the failure rate was 11%. The course met 13 out of 14 requirements for a simulation-based course. CONCLUSIONS: The basic open surgical skills course teaches trainees the basic skills for open surgery including knot tying, suturing, dissection and surgical assistance. The course significantly increases the participants' surgical abilities and meets requirements for a well-structured simulation course. FUNDING: Equipment was provided by Copenhagen Academy for Medical Education and Simulation, Capital Region, Copenhagen, Denmark. The authors have no conflicts of interest or financial ties to disclose. TRIAL REGISTRATION: The study did not require registration as this is a retrospective quality control study using anonymised participant data.


Asunto(s)
Competencia Clínica , Educación de Postgrado en Medicina , Cirugía General/educación , Entrenamiento Simulado/métodos , Adulto , Animales , Curriculum , Dinamarca , Femenino , Humanos , Masculino , Modelos Anatómicos , Modelos Animales , Porcinos
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