Code: | OPT123 | Acronym: | PMDAD |
Keywords | |
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Classification | Keyword |
OFICIAL | Medicine |
Active? | Yes |
Responsible unit: | Departamento de Biomedicina |
Course/CS Responsible: | Integrated Master in Medicine |
Acronym | No. of Students | Study Plan | Curricular Years | Credits UCN | Credits ECTS | Contact hours | Total Time |
---|---|---|---|---|---|---|---|
MIMED | 8 | Mestrado Integrado em Medicina- Plano oficial 2013 (Reforma Curricular) | 4 | - | 3 | 28 | 81 |
5 |
The main purpose of this curricular unit is to provide the students with the necessary knowledge regarding relevant aspects of the molecular mechanisms and clinical context of some of most prevalent developmental diseases. At the end of this curricular unit, the students should be capable of presenting a clinical case or a scientific article by integrating the knowledge at molecular and cellular levels in the discussion of clinical cases.
In each thematic unit (module) it is intended to practice the following learning objectives:
- Know the molecular and cellular processes underlying each of the presented pathologies;
- Understand the clinical profiles of the pathologies shown;
- Present and discuss in group, in a critical manner, one clinical case or scientific article. In respect to clinical cases, the students should integrate the molecular and clinical aspects. In the case of scientific articles, they should explore the clinical problem, objectives, experimental models, results, discussion and conclusions.
The syllabus per module:
Module 1: Diseases associated to chromossomopaties, neural tube and craniofacial defects. For each disease: etiological factors (genetic and environmental); pre-natal screening (biochemical and imaging); developmental profiling; molecular and cellular mechanisms; clinical characteristics; therapeutic implications; research lines.
Module 2: Inherited metabolic diseases. Concept of inherited metabolism disorder; pathophysiological classification; biochemical and molecular aspects; diagnostic steps; intoxication diseases; energetic metabolism diseases; metabolism diseases of complex molecules; group characteristics; phenotypic diversity and heterogeneity; genotype correlation; principles of therapeutic approaches; prognostic: natural story of the disease and its modification; prevention; systematic and orientated screenings; familiar intervention.
Module 3: Neuropsychiatric disorders. Autism spectrum disorders and schizophrenia: clinical characteristics; neurodevelopmental profiling; molecular and cellular mechanisms; etiological factors (genetic, epigenetic and environmental); therapeutic implications; research lines.
Module 4: Neuropediatric diseases. Muscular dystrophy and epilepsy: clinical characteristics; etiological factors (genetic and environmental); neurodevelopmental profiling; molecular and cellular mechanisms; therapeutic implications; research lines.The guiding thread of this curricular unit will be the fact that all these pathologies have in their etiology developmental defects. In each thematic unit (module) there will be theoretical (T) (3h) and theoretical-practical sessions (TP) (3h). At the end of the four modules, in TP sessions (4h), the students will present in group one clinical case and discuss it with the class.
Evaluation:
a) Participation on discussion (PP). These discussion forums will take place in TP sessions and will be a scattered evaluation method occurring at the end of each module. The students will be divided into small groups. One clinical case or a scientific paper will be given to each group of students for analysis. The students will be evaluated individually based on their performance in the analysis and critical discussion.
b) Presentation and discussion of a clinical case (CC). At the end of the curricular unit, each group of students will present a clinical case, of their interest, making use of the knowledge acquired along the modules. The subject of this work is free and hopefully original. It can consist on the presentation of a clinical case, new/future therapeutic approaches, relevant scientific article, literature or other. The students will be evaluated taking into consideration their presentation, content, relevance, innovation and discussion offered.
Designation | Weight (%) |
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Apresentação/discussão de um trabalho científico | 20,00 |
Participação presencial | 80,00 |
Total: | 100,00 |