Orofacial Genetics

Code:

MIMD050106

Acronym:

GENORO

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2024/2025 - 1S

Active?	Yes
Responsible unit:	Mestrado Integrado
Course/CS Responsible:	Integrated Master in Dental Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMD	69	Official Plan from the academic year 2020/2021	5	-	3	45	81
MIMD	69	NÃO INSCREVER - Plano exclusivo para uso administrativo	5	-	3	45	81

Teaching language

Portuguese

Objectives

Enable students to perform the dental care to patients with specific needs (with hereditary genetic and / or hereditary pathology, pregnant womens, babies, puerperal patients, oncologic patients under chemotherapeutic and / or radiotherapeutic treatment).

Manage skills to students (future Dentists) to acquire capabilities of:

Request genetic tests to their patients, read the results of genetic tests prescribed to their patients and understand their clinical implications, identify individuals at risk and conduct in to a proper referral, integrate the future dentists in the multidisciplinary team that treats the genetically compromised individual.

Learning outcomes and competences

The integrated and progressive approach of the program will allow students to acquire general knowledge and skills set out in the objectives, ensuring consistency between the syllabus. Strategies will be implemented to ensure that assimilation of concepts was achieved after exposure of the contents. To guarantee that students make rational and informed decision, they will be faced with clinical cases (presented in person or in video) and discussed the options for each of them. With presentation and discussion of the contents of this cases is intended to emphasize the formulation of questions, the analysis of results and resolution of real clinical situations.The student/future dentist should identify orofacial /craniofacial signs of genetic and hereditary pathology in specific patients. Shoull also identify individuals at risk and how correctly forward them, request genetic test and understand the clinical results and implications.

Working method

Presencial

Pre-requirements (prior knowledge) and co-requirements (common knowledge)

The acquisition of the desired knowledge, which allows the student to acquire the ability to: identify orofacial and craniofacial signs of genetic and hereditary pathology in the majority of the population and provide care to specific patients in specific patients (pregnant women, babies, puerperal women, cancer patients) ; to request genetic tests from their patients; to interpret the results of the genetic tests prescribed to their patients and to be able to identify individuals at risk and proceed with the correct referral of these patients; it is based on the previous acquisition of previous knowledge in the field of medical genetics, as well as on its integration with the clinical practice recently started.

Program

Introduction to orofacial genetics. The face and genetic disorders. Systematic approach to the observation of birth defects and/or genetic. Specific patients query - Baby, pregnant and postpartum women, cancer patients. Extraoral / intraoral examination. Extraoral/ intraoral examination. Treatment protocol. Syndromes with craniofacial expression and particular interest to the dentist. Genetic and / or hereditary pathologies with orofacial manifestations (gastrointestinal, dental, gingival, tongue pathology). Saliva and microfluids - Genetic tests. Cancer - genetic susceptibility. Susceptibility to dental caries. Susceptibility to pathology in orthodontics. Susceptibility to prosthetic pathology. Genetic tests for periodontal and peri-implant pathology. Updates in Genetics - applications to Dentistry.

Mandatory literature

Robert J. Gorlin,; Syndromes of the head and neck. ISBN: 0-19-504518-1
Mary Louise Buyse,; Birth defects encyclopedia. ISBN: 0-86542-228-1
Scully, Crispia.; A color atlas of orofacial health and disease in children and adolescents. 2005.. ISBN: 1841841021.
Laskaris, George. ; Color atlas of oral diseases in children and adolescents. , 2002. ISBN: 0865777896.
Strachan T. Read AP.; Human molecular genetics - Concepts and Applications., Bios (2ª Edição) , 2009
Lewis Ricki; Human genetics concepts and applications, McGrawHill Higher Education (20ª Edição), 2018. ISBN: 13: 978-1259700934
Nussbaum, Robert; McInnes Roderick; Willard, Huntington. ; Thompson & Thompson Genetics in Medicine, Elsevier (8ª Edição), 2016. ISBN: 978-1-4377-0697- 3.

Complementary Bibliography

P. Vaz M. M. Gallas A. C. Braga J. C. Sampaio‐Fernandes A. Felino P. Tavares; IL1 gene polymorphisms and unsuccessful dental implants, Clin Oral Implants Res. , 2012
Margarida Sampaio Fernandes, Paula Vaz, Ana Cristina Braga, João Carlos Sampaio Fernandes, Maria Helena Figueiral; The role of IL-1 gene polymorphisms (IL1A, IL1B, and IL1RN) as a risk factor in unsuccessful implants retaining overdentures, Prosthodont Res. , 2017

Teaching methods and learning activities

Theoretical and practical learning.

Theoretical classes works to acquire, summarize and integrate new knowledge. The exhibition is performed using the appropriate software presentations (PPT®/Prezi®) and thematic videos. The practical classes aim knowledge acquisition about the modus operandi of dental queries in specific patients in a clinical setting. Are also presented videos of Orofacial Genetics queries, performed at the FMDUP Clinic, alluding to clinical cases that are or have completed a multidisciplinary intervention. At the same time students group work will be developed, subject to the newer topics Orofacial Genetics, under tutorial support.

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Designation	Weight (%)
Exame	50,00
Trabalho escrito	25,00
Apresentação/discussão de um trabalho científico	25,00
Total:	100,00

Amount of time allocated to each course unit

Designation	Time (hours)
Frequência das aulas	4,00
Trabalho escrito	3,00
Apresentação/discussão de um trabalho científico	2,00
Elaboração de projeto	3,00
Total:	12,00

Eligibility for exams

The FMDUP regulation for obtaining attendance is the rule..



The TP component includes attendance of 75% of TP classes, continuous assessment and group work throughout the semester.



The possibility of taking the final T exam is only possible after completing the mandatory TP component.



Approval for the Curricular Unit is only possible with a minimum final grade of 9.5, which includes the 2 components T and TP.

Calculation formula of final grade

Theoretical Evaluation (T) - final exam composition
It is made through an examination consisting of multiple choice questions with five or more points. The student points out all the points with V or F. Each point marked wrongly discounts 1/2 of the value of a correct one. This examination will be priced 0 to 20 values.

Continuous assessment - T-Practice Evaluation (TP)

Assigned by the teacher in charge according to the evaluation of work undertaken by the student (written work, oral presentation and continuous assessment). The course grade is 0 to 20.

Endnote
The note is obtained using the following formula:
theoretical evaluation (written final exam) and T-practical evaluation

Approval for the curricular unit is effected with a minimum score of 9,5 values

Examinations or Special Assignments

Students whose status allows the system frequency and / or special assessment may request additional assessment.

Special assessment (TE, DA, ...)

Students whose status permits the system of special assessment may request an assessment outside the normal schedule, and safeguarded the assessment components.

Classification improvement

To achieve a grade improvement is mandatory to perform an exam with the disciplines T and TP components, keeping the same evaluation criteria applied at the time of appeal.

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