scholarly journals Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica

2019 ◽  
Vol 43 (1 suppl 1) ◽  
pp. 440-450
Author(s):  
Débora Gusmão Melo ◽  
André Anjos da Silva ◽  
Antonette Souto El Husny ◽  
Victor Evangelista de Faria Ferraz
Keyword(s):  
Birth Defects ◽  
Professional Education ◽  
Medical Training ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Medical Genetics ◽  
Health Concern ◽  
Unified Health System ◽  
Competency Based ◽  
Epidemiological Profile

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

scholarly journals Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics

2019 ◽  
Vol 43 (1 suppl 1) ◽  
pp. 440-450
Author(s):  
Débora Gusmão Melo ◽  
André Anjos da Silva ◽  
Antonette Souto El Husny ◽  
Victor Evangelista de Faria Ferraz
Keyword(s):  
Birth Defects ◽  
Professional Education ◽  
Medical Training ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Medical Genetics ◽  
Health Concern ◽  
Brazilian Society ◽  
Unified Health System ◽  
Genetics And Genomics

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

scholarly journals Effectiveness of Poster and/or Mini-Lecture on Genetic Disorders and Birth Defects Related Knowledge among Secondary Level Students of Kaski, Nepal

2019 ◽  
Vol 17 (3) ◽  
pp. 331-335
Author(s):  
Babu Ram Pokhrel ◽  
Chiranjivi Adhikari
Keyword(s):  
Public Schools ◽  
Health Education ◽  
Birth Defects ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Intervention Group ◽  
Cost Effective ◽  
Control Group ◽  
Health Education Intervention ◽  
Quasi Experimental

Background: Almost seven percent of disease burden is due to genetic disorders and birth defects and they are associated to genetic as well as environmental factors. Prevention of such problems by making aware and increasing knowledge level with the help of health education during adolescence is cost-effective among others. In this context, current study proposed whether mini-lecture and/or poster is/are effective in changing adolescents’ knowledge regarding genetic disorders and birth defects.Methods: Mini-lectures followed by posters on genetic disorders and birth defects were used for intervention group, whereas for control, only mini-lectures based on health promotion were delivered by trained personnel in nine through 12 grade students of conveniently selected two public schools of Kaski district using quasi-experimental design. Knowledge was assessed using a pretested inventory at baseline, after two weeks of mini-lectures and two more weeks after poster for intervention group, whereas, only at baseline and two weeks after mini-lectures for control. Statistical analysis was carried out to compare the intervention group of 133 students with that of control group of 154. Results: Mean knowledge increments among control and intervention groups were 0.20 and 0.68 points respectively after mini-lecture. An addition of 0.84 points gained after the poster, yielding overall increment of 1.52 in intervention group. Inferential analysis showed that effect of control was not effective (p=0.60), whereas mini-lecture (p=0.032), poster (p=0.008) and both mini-lecture and poster (p<0.001) were effective.Conclusions: The mini-lecture and/or poster for grade nine through 12 are effective methods and media for bringing about changes in knowledge of adolescents regarding genetic disorders and birth defects. Keywords: Genetic disorder and birth defect; health education; intervention; knowledge; nepal.

GENETIC DISORDER OF THE ENDOCRINE GLANDS, by David L. Rimoin, M.D., Ph.D., R. Neil Schimke, M.D. St. Louis: The C. V. Mosby Company, 1971, 383 pp., $32.50

PEDIATRICS ◽  
1972 ◽  
Vol 49 (5) ◽  
pp. 798-798
Author(s):  
S. Douglas Frasier
Keyword(s):  
Genetic Disorders ◽  
Genetic Disorder ◽  
Endocrine Glands

The authors present this book as an attempt to catalogue the known genetic disorders of the endocrine glands. They have succeeded admirably. Each chapter begins with a brief description of the embryology and physiology of the gland under discussion. If there are weaknesses in this presentation, they are excusable in the light of the authors' main purpose. Embryology and physiology are followed by a catalogue of genetic disorders which are associated with altered function of that gland.

scholarly journals Epidemiological and sociodemographic characterization of women and men with cancer in a State in the Brazilian Amazon

2020 ◽  
Vol 8 (6) ◽  
pp. 545-576
Author(s):  
Carlos Alberto Paraguassu Chaves ◽  
Allan Kardec Duailibe Barros Filho ◽  
Carlos de Andrade Macieira ◽  
Fabrício Moraes de Almeida ◽  
Lenita Rodrigues Moreira Dantas ◽  
...  
Keyword(s):  
The State ◽  
Primary Data ◽  
Cross Sectional ◽  
Unified Health System ◽  
Informed Consent Form ◽  
Health Council ◽  
Reference Hospital ◽  
Therapeutic Procedures ◽  
Epidemiological Profile

Objective: Objective: Analyzes the epidemiological and sociodemographic characterization of women and men with cancer in the State of Rondônia, Western Amazon (Brazil), diagnosed over a period of 2 (two) years. Materials and Methods: It is a documentary, cross-sectional and descriptive study, with the systematization of primary data, according to the methodological model recommended by Paraguassú-Chaves et al [25]. We used an instrument developde by Paraguassu-Chaves et al [26], semi-structured, divided into two blocks: (a) Block I – sociodemographic profile and (b) Block II – epidemiological profile. The Ethics Committee on Human Research at the reference hospital was asked to waive the Informed Consent Form. The research project is in accordance with Resolution 196/96 of the National Health Council of Brazil. Results: Of the 3.333 new cases of cancer, 53.4% ​​were female and 46.5% male. The 10 (ten) most common types of cancer among men and women in Rondônia over a 2-year period were non-melanoma skin (C44), breast (C50), prostate (C61), cervix (C53), stomach (C16), thyroid gland (C73), bronchi and lungs (C33-C34), colon (C18), reticuloendothelial hematopoietic system (C42) and rectal cancer (C20). An age range of 50 to 69 years was predominant in both sexes and patients with low educational level. The highest frequency was for married patients. There was a predominance of brown skin, patients born in the State of Rondônia (22.6%) and agricultural workers. The Unified Health System - SUS was responsible for the entry for treatment of 99.5% of patients. Most patients underwent “other isolated therapeutic procedures” and with the disease in advanced stages. Conclusions: The estimate of new cancer cases in Rondônia follows an increasing trend. The scenarios selected from the variables of the sociodemographic and epidemiological indicators of the research require the public health authorities of Rondônia, urgent redirection of actions and strategies for the prevention, control, assistance and treatment of cancer in women and men in Rondônia.

Genetic Disorders and Major Extracardiac Anomalies Associated With the Hypoplastic Left Heart Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (5) ◽  
pp. 698-706 ◽  
Author(s):  
Marvin Natowicz ◽  
Jane Chatten ◽  
Robert Clancy ◽  
Katrina Conard ◽  
Tracy Glauser ◽  
...  
Keyword(s):  
Hypoplastic Left Heart Syndrome ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Single Gene ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Gene Defects ◽  
Insulin Dependent Diabetic ◽  
Left Heart Syndrome

All pediatric autopsies of patients with hypoplastic left heart syndrome seen during an 11-year interval were reviewed to determine the frequency of underlying chromosomal and single-gene defects and idiopathic major extracardiac anomalies associated with this common, lethal congenital heart abnormality. Of 83 patients identified, nine had underlying chromosomal abnormalities, four had single-gene defects, ten had one or more major extracardiac anomalies without an identifiable chromosomal or mendelian disorder, and two were infants of insulin-dependent diabetic mothers. Overall, 23 patients (28%) had a genetic disorder and/or major extracardiac anomaly. The substantial prevalence of genetic causes of and major extracardiac anomalies associated with hypoplastic left heart syndrome underscores the need for a detailed genetic evaluation for all patients with hypoplastic left heart syndrome.

scholarly journals Profile of Hand Surgery Cases at Kirtipur Hospital

2018 ◽  
Vol 14 (2) ◽  
pp. 41-43
Author(s):  
Bikash Karki ◽  
Kiran Nakarmi ◽  
Mangal Gharti Magar ◽  
Krishna Nagarkoti ◽  
Shankar Man Rai
Keyword(s):  
Birth Defects ◽  
Reconstructive Surgery ◽  
Hand Surgery ◽  
Health Concern ◽  
Age Group ◽  
Hand Trauma ◽  
Public Health Concern ◽  
Cross Sectional ◽  
Common Cause ◽  
Male Preponderance

Background: There can be multiple hand problems with which patients can present. Such hand problems can be because of any kind of trauma, birth defects, tumours, infection or other conditions. Hand surgery is a special field of plastic surgery, which deals with these hand problems. The Department of Burns, Plastic & Reconstructive Surgery of Kirtipur Hospital run by Public Health Concern Trust-Nepal has been providing hand surgery service to the patients with these hand problems.Aim of Study: To analyse the various types of surgical hand problems in patients attending Kirtipur Hospital.Material and Methods: It is a cross sectional retrospective  observational study of the patients with different hand problems done at the Department of Burns, Plastic & Reconstructive surgery of Kirtipur Hospital from January to December 2016.Results: There were 124 patients who presented with various hand problems. There was male preponderance and the most common age group affected was between 15-60 years. Hand trauma was the most common cause of hand problems followed by post burn contractures.Conclusion: Hand is a complicated organ which can give rise to various problems. Hand surgery is an essential component of reconstructive surgery to deal with these problems. JNGMC,  Vol. 14 No. 2 December 2016, Page: 41-43

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