scholarly journals Interdisciplinarity Education as an Instrument of Training Terminologists in the Fields of Medical Genetics and Genetic Diseases

1986 ◽  
Vol 31 (1) ◽  
pp. 85
Author(s):  
Vladimir N. Nekrassoff
Keyword(s):  
Genetic Diseases ◽  
Medical Genetics

scholarly journals First-year students’ perceptions of team-based learning in a new medical genetics course

2019 ◽  
Vol 43 (3) ◽  
pp. 170-177
Author(s):  
Vinicius Canato Santana ◽  
Carlos Rocha Oliveira ◽  
Ramon Bossardi Ramos
Keyword(s):  
Medical Education ◽  
New Technologies ◽  
Genetic Diseases ◽  
Medical Genetics ◽  
First Year ◽  
First Year Students ◽  
Students First ◽  
First Year Medical Students ◽  
First Time ◽  
Large Groups

ABSTRACT Background Medical education has evolved considerably over the last few years, especially through adoption of new technologies and active methodologies. These methodologies aim to improve learning and engage students deeply in the process. TBL is a methodology widely used in health schools, including Medical Schools. We can use it to work with large groups, divided into small teams. The students first work individually, then within teams, and finally the groups cooperate to solve applied problems. Objectives To describe students’ perceptions and satisfaction about a Medical Genetics course organized into blocks of subject in which we used TBL sessions with first-year medical students. Methods A Medical Genetics course were organized into subject blocks in which a TBL session was conducted in each of these blocks to improve the learning process. At the end of the course, the students answered a questionnaire on satisfaction and perceptions. Results By the first time we described a Medical Genetics course organized into 5 blocks of subject matter on a total of 25 genetic diseases in which a TBL session was conducted in each of these blocks. We enrolled a total of 290 participants and 96% of the students were satisfied with TBL. Furthermore, 97% of students believe that TBL helped them to learn, and 87% approved of use of TBL in the future at other stages of their medical course. Conclusion Application of the TBL method during a medical genetics course was well-received by students and proved an important tool in the structures of curricula for medical education at this university.

Molecular and medical genetics

2021 ◽  
pp. 195-224
Keyword(s):  
Gene Expression ◽  
Population Genetics ◽  
Gene Structure ◽  
Protein Sequence ◽  
Genetic Information ◽  
Genetic Diseases ◽  
Medical Genetics ◽  
Pharmacological Interventions ◽  
Rna Transcription ◽  
Dna Cloning

‘Molecular and medical genetics’ firstly covers the principles of molecular genetics, including gene structure, gene expression, and how mutations affect the encoded protein sequence. The key mechanisms of gene expression are described, including regulation and RNA transcription, processing, and translation. The organization of the genome is described, followed by the techniques of DNA cloning and sequencing. The second part of the chapter on medical genetics covers the principles of population genetics and genetic diseases, their treatment, and the integration of knowledge of genetic information into pharmacological interventions (pharmacogenetics and pharmacogenomics).

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast

2020 ◽  
pp. 1-16
Author(s):  
Augusto César Cardoso-dos-Santos ◽  
Virginia Ramallo ◽  
Marcelo Zagonel-Oliveira ◽  
Maurício Roberto Veronez ◽  
Pablo Navarro ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Genetic Diseases ◽  
Genetic System ◽  
Quantitative Information ◽  
Medical Genetics ◽  
Epidemiological Surveillance ◽  
Spatially Correlated ◽  
Demographic Heterogeneity ◽  
Rare Genetic Diseases ◽  
Brazilian Northeast

Abstract Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region – the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

scholarly journals Medical genetics workforce in Brazil: practitioners, services, and disease distribution

2021 ◽  
Author(s):  
Carolina Bonilla ◽  
Vinicius Albuquerque Sortica ◽  
Lavinia Schuler-Faccini ◽  
Alicia Matijasevich ◽  
Mário Cesar Scheffer
Keyword(s):  
Demographic Data ◽  
Genetic Diseases ◽  
Significant Proportion ◽  
Medical Genetics ◽  
Public And Private ◽  
Medical Specialties ◽  
Public System ◽  
The Public ◽  
Rare Genetic Diseases ◽  
Cancer Syndromes

Purpose In anticipation of the implementation of personalized medicine (PM) in Brazil we assessed the demographic characteristics of its medical genetics workforce together with the distribution of rare genetic diseases (RGD) and hereditary cancer syndromes (HCS) across municipalities in the country. Methods We used demographic data from an earlier report on medical specialties, and open databases providing summarized data on the public and private healthcare systems, for the years 2019 and 2020. In the public system we considered RGD live births and hospitalizations, and HCS mortality. In the private system we obtained data on RGD, HCS and genetic counselling appointments. Results The 332 registered medical geneticists (MGs) were mostly female, attended a public medical school, and were predominantly registered in the Southeast. The distribution of MGs overlapped the country-wise distribution of all types of genetic disease and service examined, indicating that ~30% of the patient population has access to a MG specialist. Conclusion The Brazilian MG workforce is concentrated in the richest and most populated areas and while it covers a significant proportion of the population there are vast regions with very limited services. The public health system should address these inequalities for a successful transition to PM.

scholarly journals Profile of patients seen at a medical genetics outpatient clinic at a University Center in Belém, Pará, Amazon

2021 ◽  
pp. 48-62
Author(s):  
Gabriela Elenor dos Santos Lima ◽  
Carlos Henrique Lopes Martins ◽  
Carla Viana Dendasck ◽  
Ciane Martins de Oliveira ◽  
Euzébio de Oliveira
Keyword(s):  
Outpatient Clinic ◽  
Medical Records ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Medical Specialty ◽  
Medical Genetics ◽  
Microsoft Excel ◽  
University Center ◽  
Development Delay ◽  
Age At Birth

Medical Genetics (GM) has become a recognized medical specialty, with important concepts and approaches in the diagnosis and treatment of many common and rare diseases. Genetic diseases follow inheritance patterns, and may be autosomal recessive, autosomal dominant, linked to the X chromosome or Y chromosome, or multifactorial. The aim of this study was to determine the profile of patients treated at a GM outpatient Clinic at a University Center in Belém, Pará State. Data were collected from patient records, seen between 2014 and 2019, using the researchers’ own questionnaire, with data analyzed and tabulated through the Microsoft Excel program. A total of 101 medical records were analyzed, with predominance of females (51 patients). In addition, most of the care was for children (41.5%). Regarding ethnicity, only the variables “white” and “brown” were observed, with a higher prevalence of brown patients (78 of the total). Also, Belém was the most prevalent city in the naturalness of patients (61 records). The specialties with the highest number of referrals to the GM outpatient clinic were Endocrinology and Neurology, with Neuropsychomotor Development Delay being the most frequent diagnosis. In 42 medical records, the age at diagnosis was not present. Of the 101 patients, only 16 had genetic counseling and in the remaining 85 there was no record on this information. Finally, maternal age at birth was not found in most medical records (absent in 61.38%). Thus, developing a profile of the patient seen in a GM outpatient clinic is important, since it becomes possible to identify any failures in the service provided, in addition to adapting the doctor-patient relationship.

Societal problems in human and medical genetics

Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 870-875 ◽  
Author(s):  
Arno G. Motulsky
Keyword(s):  
Genetic Screening ◽  
Behavioral Genetics ◽  
Genetic Diseases ◽  
Medical Genetics ◽  
Insurance Companies ◽  
Predictive Diagnosis ◽  
Ethical Problems ◽  
Future Developments ◽  
Health And Disease ◽  
Societal Problems

The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human health and disease is producing difficult dilemmas. New problems are likely to surface, but human ingenuity and rationality is likely to find just and compassionate solutions in most settings.Key words: genetics and society; genetic diseases; counseling, genetic screening.

scholarly journals Management of biobanking for medical genetics research

2022 ◽  
Vol 20 (8) ◽  
pp. 3027
Author(s):  
V. Yu. Tabakov
Keyword(s):  
Genetic Diseases ◽  
Medical Genetics ◽  
Research Center ◽  
Storage Facility ◽  
Blood Components ◽  
Coding System ◽  
Genetics Research ◽  
Systems Identification ◽  
Research Equipment ◽  
Tissue Origin

Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P. Bochkov Medical Genetics Research Center provides a centralized infrastructure for preparing biomaterial for research. Biobank has the format of a research equipment sharing center and works with two types of unique biomaterials from patients with genetic diseases: blood/blood components and vital cells of various tissue origin. The storage facility of the Biobank is equipped with low-temperature (-80° C) and cryostorage (-196° C) systems. Identification and search of samples is carried out using a bar-coding system and is implemented through the information interface of the biobank, which is integrated into the general database of patients at the Medical Genetics Research Center. Information on biomaterial samples is presented in periodically updated catalogs on the page of equipment sharing center “Biobank”. Biobank collection is available to internal and external users.

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

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